ClinVar Miner

List of variants reported as likely pathogenic by CeGaT Praxis fuer Humangenetik Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2034
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HGVS dbSNP
GRCh37/hg19 10p11.21-q11.22(chr10:37149872-46169876)x3
GRCh37/hg19 10q11.22-21.1(chr10:49390457-60061643)x1
GRCh37/hg19 10q21.1(chr10:55581618-56288162)x6
GRCh37/hg19 10q21.3-22.1(chr10:68394411-70673475)x1
GRCh37/hg19 12p13.32(chr12:4758264-4796274)x1
GRCh37/hg19 12q23.1(chr12:100166700-100175875)x3
GRCh37/hg19 13q34(chr13:110828771-110831768)x1
GRCh37/hg19 14q24.1(chr14:68248050-68282680)x1
GRCh37/hg19 14q24.3(chr14:76184204-76201632)x0
GRCh37/hg19 15q14(chr15:38466370-38578075)x1
GRCh37/hg19 15q15.1(chr15:42684837-42686539)x1
GRCh37/hg19 15q21.1(chr15:45360338-45437443)x2
GRCh37/hg19 15q21.1(chr15:48736738-48760299)x3
GRCh37/hg19 15q21.3(chr15:57543548-57544690)x1
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3
GRCh37/hg19 15q26.3(chr15:101031022-101031136)x1
GRCh37/hg19 15q26.3(chr15:101031022-101031136)x3
GRCh37/hg19 16p13.13(chr16:11348700-11349387)x1
GRCh37/hg19 16p13.3(chr16:162621-188266)x1
GRCh37/hg19 16p13.3(chr16:7354384-7383089)x3
GRCh37/hg19 16q23.1(chr16:77981957-79037091)x1
GRCh37/hg19 17p13.1(chr17:7357616-7357839)x1
GRCh37/hg19 17p13.3(chr17:882559-1401416)x1
GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3
GRCh37/hg19 17q21.2(chr17:38456598-38456659)x1
GRCh37/hg19 17q21.32-22(chr17:46481089-51396368)x1
GRCh37/hg19 17q23.2(chr17:60106902-60112969)x3
GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3
GRCh37/hg19 18p11.21(chr18:11752397-11881133)x3
GRCh37/hg19 18q21.1(chr18:44219579-44221999)x1
GRCh37/hg19 18q21.33-23(chr18:59461447-78010032)x1
GRCh37/hg19 19p13.2(chr19:13135448-13136366)x1
GRCh37/hg19 19p13.2(chr19:13135448-13136366)x2
GRCh37/hg19 19p13.2(chr19:13135810-13136366)x1
GRCh37/hg19 19p13.2(chr19:13563690-13566026)x1
GRCh37/hg19 19p13.2(chr19:13563690-13617038)x1
GRCh37/hg19 19p13.3(chr19:266117-1094614)x3
GRCh37/hg19 19q13.42(chr19:53793603-53824343)x3
GRCh37/hg19 1p22.1(chr1:94528133-94528873)x1
GRCh37/hg19 1p36.33(chr1:1451392-1452792)x1
GRCh37/hg19 1q21.1-21.2(chr1:146506310-147824207)x3
GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3
GRCh37/hg19 1q32.1(chr1:202302138-202304946)x1
GRCh37/hg19 1q41(chr1:216173745-216500996)x1
GRCh37/hg19 1q41(chr1:216260061-216270555)x1
GRCh37/hg19 1q41(chr1:216462622-216465712)x1
GRCh37/hg19 20q11.23(chr20:34959766-34960308)x1
GRCh37/hg19 20q13.33(chr20:61337529-62904501)x1
GRCh37/hg19 21q22.3(chr21:44473972-44480656)x1
GRCh37/hg19 21q22.3(chr21:47535923-47536591)x1
GRCh37/hg19 22q11.21(chr22:18893887-18923800)x1
GRCh37/hg19 22q12.1(chr22:29083885-29092975)x1
GRCh37/hg19 22q12.1(chr22:29092889-29096019)x1
GRCh37/hg19 22q12.2(chr22:32150908-32156688)x1
GRCh37/hg19 22q12.2(chr22:32164800-32164849)x1
GRCh37/hg19 22q12.3(chr22:33960834-34046791)x3
GRCh37/hg19 22q13.1(chr22:39629440-39639968)x1
GRCh37/hg19 2p13.2(chr2:71755428-71755531)x0
GRCh37/hg19 2q12.3(chr2:109522764-109522824)x1
GRCh37/hg19 2q13(chr2:112656313-112786441)x1
GRCh37/hg19 2q23.2(chr2:150438641-150438785)x0
GRCh37/hg19 2q24.3(chr2:166221754-166646820)x1
GRCh37/hg19 2q24.3-31.1(chr2:165173620-169779326)x1
GRCh37/hg19 2q31.1(chr2:169787175-169789043)x1
GRCh37/hg19 2q35(chr2:215593400-215646233)x1
GRCh37/hg19 2q35(chr2:215632206-215634036)x1
GRCh37/hg19 2q35-36.3(chr2:217374144-227643620)x1
GRCh37/hg19 2q36.3(chr2:228167754-228169799)x1
GRCh37/hg19 3p25.3(chr3:9969850-9979790)x1
GRCh37/hg19 3q25.2(chr3:154855891-154860119)x1
GRCh37/hg19 3q26.32(chr3:176895307-177090616)x3
GRCh37/hg19 4q31.3(chr4:151186874-151186964)x1
GRCh37/hg19 4q31.3(chr4:151199005-151199156)x1
GRCh37/hg19 4q31.3(chr4:151203602-151203798)x1
GRCh37/hg19 4q31.3(chr4:151207085-151207186)x1
GRCh37/hg19 4q35.1-35.2(chr4:183245174-190948359)x1
GRCh37/hg19 5p15.33(chr5:52186-4163906)x1
GRCh37/hg19 5q13.2(chr5:69408016-69408880)x4
GRCh37/hg19 5q14.3(chr5:88119552-88119605)x1
GRCh37/hg19 5q23.2-31.2(chr5:126377719-136270989)x1
GRCh37/hg19 5q31.1(chr5:131922768-131924818)x1
GRCh37/hg19 6p21.1(chr6:42039993-42270812)x3
GRCh37/hg19 6p21.33(chr6:32020447-32020770)x1
GRCh37/hg19 6q12(chr6:65098583-65767620)x1
GRCh37/hg19 6q12(chr6:65300116-65303202)x1
GRCh37/hg19 6q12(chr6:65523271-65767620)x1
GRCh37/hg19 6q21(chr6:110113784-110113868)x0
GRCh37/hg19 6q21(chr6:110113784-110113868)x1
GRCh37/hg19 6q25.1(chr6:151742378-151869624)x1
GRCh37/hg19 6q26(chr6:162683557-162683797)x3
GRCh37/hg19 6q26(chr6:162864342-162864505)x1
GRCh37/hg19 6q27(chr6:167360170-167362113)x0
GRCh37/hg19 7q21.3(chr7:94129826-94844077)x1
GRCh37/hg19 7q36.1(chr7:150642453-150656824)x1
GRCh37/hg19 8p11.21(chr8:42693105-42694524)x1
GRCh37/hg19 8p11.21(chr8:42812276-42813614)x1
GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3
GRCh37/hg19 8p23.3-23.1(chr8:176814-7753583)x1
GRCh37/hg19 8q12.2(chr8:61750227-61750394)x3
GRCh37/hg19 8q22.2(chr8:100050651-100123507)x1
GRCh37/hg19 8q22.2(chr8:100286427-100287483)x1
GRCh37/hg19 8q22.2(chr8:100587886-100589861)x1
GRCh37/hg19 8q24.21(chr8:128750494-128753204)x3
GRCh37/hg19 9p24.3(chr9:266045-434797)x1
GRCh37/hg19 9q34.11(chr9:130438083-130446756)x1
GRCh37/hg19 Xp11.22(chrX:53094819-53414375)x1
GRCh37/hg19 Xp11.4(chrX:39911362-39937182)x1
GRCh37/hg19 Xp21.1(chrX:31815807-31875058)x0
GRCh37/hg19 Xp21.2(chrX:31187560-31187718)x0
GRCh37/hg19 Xp22.11(chrX:22108547-22108570)x1
GRCh37/hg19 Xp22.11(chrX:22108547-22108615)x0
GRCh37/hg19 Xq11.1(chrX:62893918-62898452)x1
GRCh37/hg19 Xq22.1(chrX:99742359-100759773)x3
GRCh37/hg19 Xq26.3(chrX:135092601-135092742)x4
GRCh37/hg19 Xq28(chrX:153281481-153296901)x1
NC_000001.11:g.244856852_244856858del rs1573330502
NC_000008.11:g.95045545del
NC_000019.10:g.35282425C>T
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu) rs28941773
NM_000017.4(ACADS):c.208C>T (p.Gln70Ter) rs753758429
NM_000018.4(ACADVL):c.1076C>T (p.Ala359Val) rs539029862
NM_000020.2(ACVRL1):c.1406_1413dup (p.Trp472fs) rs1057519168
NM_000021.4(PSEN1):c.1270C>G (p.Leu424Val) rs1555358260
NM_000021.4(PSEN1):c.1303C>G (p.Leu435Val) rs63750001
NM_000021.4(PSEN1):c.494G>T (p.Trp165Leu)
NM_000033.4(ABCD1):c.1900G>A (p.Ala634Thr) rs782041940
NM_000033.4(ABCD1):c.2006_2007dup (p.Leu670fs) rs797044625
NM_000033.4(ABCD1):c.900G>C (p.Glu300Asp) rs1569540743
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val) rs77718928
NM_000037.4(ANK1):c.1108-1G>T rs1586412723
NM_000037.4(ANK1):c.1801-17G>A rs786205243
NM_000037.4(ANK1):c.3802A>T (p.Lys1268Ter) rs1554543126
NM_000038.6(APC):c.7513C>T (p.Arg2505Ter)
NM_000038.6(APC):c.7619_7623del (p.Pro2540fs) rs1580684796
NM_000048.4(ASL):c.470G>T (p.Gly157Val)
NM_000051.3(ATM):c.1898+2T>G rs587782124
NM_000051.3(ATM):c.1A>G (p.Met1Val) rs730881359
NM_000051.3(ATM):c.2583C>A (p.Tyr861Ter) rs886039633
NM_000051.3(ATM):c.3218dup (p.Phe1074fs) rs876660741
NM_000051.3(ATM):c.331+5G>A rs752135143
NM_000051.3(ATM):c.3567del (p.Leu1189_Val1190insTer) rs1555091431
NM_000051.3(ATM):c.3873T>G (p.Leu1291=) rs1565447438
NM_000051.3(ATM):c.4611+1G>A rs1565461840
NM_000051.3(ATM):c.4735C>T (p.Gln1579Ter) rs869312755
NM_000051.3(ATM):c.5414G>A (p.Trp1805Ter) rs879254171
NM_000051.3(ATM):c.7456C>T (p.Arg2486Ter) rs587779865
NM_000051.3(ATM):c.7463G>A (p.Cys2488Tyr) rs774281788
NM_000051.3(ATM):c.8786+2dup rs1565579654
NM_000051.4(ATM):c.1119dup (p.Gln374fs)
NM_000051.4(ATM):c.5163_5164del (p.Leu1722fs)
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser) rs201738967
NM_000053.4(ATP7B):c.1285+5G>T rs370579582
NM_000053.4(ATP7B):c.19_20del (p.Gln7fs) rs749363958
NM_000053.4(ATP7B):c.2335T>G (p.Trp779Gly) rs751798708
NM_000053.4(ATP7B):c.2755C>T (p.Arg919Trp) rs121907993
NM_000053.4(ATP7B):c.3842G>A (p.Gly1281Asp) rs755202606
NM_000053.4(ATP7B):c.4213G>A (p.Gly1405Ser) rs189601972
NM_000055.4(BCHE):c.352G>T (p.Glu118Ter) rs746209182
NM_000057.4(BLM):c.2015A>G (p.Gln672Arg) rs747281324
NM_000057.4(BLM):c.3875-2A>G rs150421256
NM_000059.3(BRCA2):c.6592G>T (p.Glu2198Ter) rs1555284766
NM_000059.3(BRCA2):c.7880T>A (p.Ile2627Asn) rs876658736
NM_000059.3(BRCA2):c.7976+1G>T rs81002873
NM_000059.3(BRCA2):c.9789_9790del (p.Asn3264fs) rs886040851
NM_000059.4(BRCA2):c.4464_4465del (p.His1488fs) rs397507720
NM_000059.4(BRCA2):c.831T>G (p.Asn277Lys) rs28897705
NM_000061.3(BTK):c.1106T>C (p.Leu369Pro)
NM_000062.3(SERPING1):c.1249G>T (p.Glu417Ter)
NM_000064.4(C3):c.3303C>G (p.Cys1101Trp)
NM_000064.4(C3):c.732C>A (p.Tyr244Ter)
NM_000069.3(CACNA1S):c.2689A>G (p.Arg897Gly) rs1572039465
NM_000069.3(CACNA1S):c.2691G>C (p.Arg897Ser)
NM_000069.3(CACNA1S):c.3256C>A (p.Arg1086Ser) rs80338782
NM_000069.3(CACNA1S):c.4543+2T>C rs1572023336
NM_000070.3(CAPN3):c.1001A>T (p.His334Leu) rs749863676
NM_000070.3(CAPN3):c.1485del (p.Ala497fs) rs1595837172
NM_000070.3(CAPN3):c.1745+4_1745+7del rs794727082
NM_000070.3(CAPN3):c.2440-6_2440-3del rs1555423426
NM_000074.2(CD40LG):c.686T>C (p.Phe229Ser) rs1569377865
NM_000080.4(CHRNE):c.1319_1326+15del rs1208462125
NM_000080.4(CHRNE):c.803-6_803-3del rs762704832
NM_000080.4(CHRNE):c.850A>C (p.Thr284Pro) rs121909510
NM_000082.3(ERCC8):c.600T>A (p.Tyr200Ter) rs1554073309
NM_000083.3(CLCN1):c.1012C>T (p.Arg338Ter) rs759761559
NM_000083.3(CLCN1):c.1167-10T>C rs543120965
NM_000083.3(CLCN1):c.1231G>T (p.Gly411Cys) rs756199349
NM_000083.3(CLCN1):c.1444_1449del (p.Gly482_Gly483del) rs1554438053
NM_000083.3(CLCN1):c.1796G>A (p.Ser599Asn) rs1554438471
NM_000083.3(CLCN1):c.2528T>C (p.Leu843Pro) rs1563090141
NM_000083.3(CLCN1):c.434-1_437del rs1563074191
NM_000086.2(CLN3):c.370del (p.Tyr124fs) rs1555468920
NM_000088.3(COL1A1):c.1003-1G>A rs72645361
NM_000088.4(COL1A1):c.2048G>A (p.Gly683Asp) rs1598292524
NM_000088.4(COL1A1):c.235_245del (p.Lys79fs)
NM_000089.3(COL1A2):c.2261G>A (p.Gly754Asp) rs1554397621
NM_000089.3(COL1A2):c.569G>A (p.Gly190Glu) rs72656369
NM_000089.4(COL1A2):c.1812del (p.Pro605fs)
NM_000089.4(COL1A2):c.785G>A (p.Gly262Asp)
NM_000090.3(COL3A1):c.1024G>A (p.Gly342Arg) rs794728040
NM_000090.3(COL3A1):c.3049G>A (p.Gly1017Arg) rs1553509397
NM_000090.3(COL3A1):c.584G>T (p.Gly195Val) rs1553507249
NM_000095.3(COMP):c.984C>G (p.Cys328Trp) rs1601055923
NM_000096.4(CP):c.2973dup (p.Asp992fs)
NM_000096.4(CP):c.48del (p.Ala17fs) rs1553765380
NM_000098.3(CPT2):c.1585C>T (p.Gln529Ter)
NM_000100.3(CSTB):c.13del (p.Ala5fs) rs1555888493
NM_000100.4(CSTB):c.43G>T (p.Glu15Ter) rs11553836
NM_000103.4(CYP19A1):c.201G>A (p.Trp67Ter) rs1057519118
NM_000107.3(DDB2):c.457-2A>C
NM_000109.4(DMD):c.7636+1G>C rs1556852444
NM_000109.4(DMD):c.9872A>G (p.His3291Arg) rs398124107
NM_000111.2(SLC26A3):c.571-2A>G rs386833486
NM_000111.3(SLC26A3):c.1385G>A (p.Trp462Ter) rs780815307
NM_000112.4(SLC26A2):c.931T>C (p.Cys311Arg) rs377432261
NM_000116.5(TAFAZZIN):c.774_777+1dup rs1603382251
NM_000117.2(EMD):c.82G>A (p.Gly28Arg) rs1064797380
NM_000122.2(ERCC3):c.1588C>T (p.Arg530Ter) rs1302552127
NM_000122.2(ERCC3):c.1762dup (p.Glu588fs)
NM_000124.4(ERCC6):c.207dup (p.Pro70fs) rs1554794641
NM_000124.4(ERCC6):c.4063-1G>C rs766980240
NM_000124.4(ERCC6):c.544-1G>A rs901360414
NM_000128.4(F11):c.188C>G (p.Ala63Gly) rs281875244
NM_000128.4(F11):c.595+3A>G rs933333847
NM_000130.5(F5):c.953-2A>C rs1571586431
NM_000131.4(F7):c.64+5G>A rs769455161
NM_000132.3(F8):c.1835G>T (p.Arg612Leu) rs782473762
NM_000135.4(FANCA):c.1567-1G>T rs1464032361
NM_000135.4(FANCA):c.189+1G>A rs891323617
NM_000135.4(FANCA):c.2602-13CT[2] rs577636020
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala) rs574034197
NM_000135.4(FANCA):c.3613C>T (p.Gln1205Ter) rs1313006784
NM_000135.4(FANCA):c.744dup (p.Lys249fs) rs1567645786
NM_000138.4(FBN1):c.401G>A (p.Cys134Tyr) rs1555405043
NM_000138.4(FBN1):c.5330G>A (p.Cys1777Tyr) rs1060501069
NM_000138.4(FBN1):c.6689G>A (p.Cys2230Tyr) rs1555394904
NM_000138.4(FBN1):c.6748G>A (p.Glu2250Lys) rs1597520789
NM_000138.4(FBN1):c.8005G>A (p.Gly2669Ser) rs794728281
NM_000138.5(FBN1):c.5158T>C (p.Cys1720Arg) rs1597545230
NM_000138.5(FBN1):c.5541dup (p.Asn1848fs)
NM_000138.5(FBN1):c.895T>C (p.Cys299Arg) rs1597587564
NM_000153.4(GALC):c.2041G>A (p.Val681Met) rs200607029
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927
NM_000157.4(GBA):c.485T>A (p.Met162Lys)
NM_000157.4(GBA):c.667T>C (p.Trp223Arg) rs61748906
NM_000158.4(GBE1):c.1693C>T (p.Arg565Trp) rs552094593
NM_000158.4(GBE1):c.760A>G (p.Thr254Ala) rs770427750
NM_000159.4(GCDH):c.764C>T (p.Ser255Leu) rs758503371
NM_000161.3(GCH1):c.400G>A (p.Asp134Asn) rs1353623780
NM_000161.3(GCH1):c.610G>A (p.Val204Ile) rs200891969
NM_000162.5(GCK):c.1364T>A (p.Val455Glu) rs753795627
NM_000162.5(GCK):c.755G>T (p.Cys252Phe) rs1372204515
NM_000165.5(GJA1):c.140A>T (p.Asp47Val) rs1554200995
NM_000166.6(GJB1):c.502T>A (p.Cys168Ser) rs1057518780
NM_000168.6(GLI3):c.4037_4046dup (p.Ser1349delinsArgAlaAspTer) rs1562657370
NM_000170.2(GLDC):c.1579_1581del (p.Ser527del) rs1563849699
NM_000170.2(GLDC):c.1664T>G (p.Leu555Arg) rs765384489
NM_000170.2(GLDC):c.1705G>A (p.Ala569Thr) rs151268759
NM_000170.2(GLDC):c.1931G>A (p.Cys644Tyr) rs386833535
NM_000170.2(GLDC):c.482A>G (p.Tyr161Cys) rs386833580
NM_000170.3(GLDC):c.635+1G>C rs1368757896
NM_000171.4(GLRA1):c.36G>A (p.Trp12Ter) rs1064797316
NM_000173.7(GP1BA):c.1792_1795del (p.Leu598fs)
NM_000179.2(MSH6):c.2314C>T (p.Arg772Trp) rs63750138
NM_000179.2(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617
NM_000180.4(GUCY2D):c.2122T>C (p.Trp708Arg) rs1064797217
NM_000180.4(GUCY2D):c.2813C>G (p.Pro938Arg)
NM_000180.4(GUCY2D):c.839C>G (p.Thr280Arg) rs868557040
NM_000182.5(HADHA):c.703C>T (p.Arg235Trp) rs786204607
NM_000193.4(SHH):c.1222GGC[5] (p.Gly411dup) rs769920627
NM_000206.3(IL2RG):c.458T>C (p.Ile153Thr)
NM_000214.3(JAG1):c.236_251del (p.Leu79fs) rs1600196426
NM_000214.3(JAG1):c.301G>C (p.Val101Leu) rs1600196349
NM_000214.3(JAG1):c.601C>T (p.Arg201Cys) rs794727618
NM_000218.3(KCNQ1):c.1699A>T (p.Ile567Phe)
NM_000238.4(KCNH2):c.2692+1G>T
NM_000243.3(MEFV):c.726C>G (p.Ser242Arg) rs104895127
NM_000249.3(MLH1):c.1559-1G>C rs267607837
NM_000249.3(MLH1):c.1744C>T (p.Leu582Phe) rs63751713
NM_000249.4(MLH1):c.191A>G (p.Asn64Ser) rs63750952
NM_000250.2(MPO):c.1555_1568del (p.Met519fs) rs536522394
NM_000251.2(MSH2):c.1989del (p.Met663fs) rs1558518588
NM_000253.4(MTTP):c.436G>T (p.Glu146Ter)
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg) rs397515912
NM_000256.3(MYBPC3):c.2635G>T (p.Glu879Ter) rs1565624607
NM_000256.3(MYBPC3):c.3332_3335dup (p.Trp1112Ter) rs730880337
NM_000256.3(MYBPC3):c.3627G>A (p.Lys1209=) rs1555120261
NM_000256.3(MYBPC3):c.653_654insCTGGTGACCC (p.Lys218delinsAsnTrpTer)
NM_000257.4(MYH7):c.2302G>A (p.Gly768Arg) rs727503260
NM_000257.4(MYH7):c.2332G>A (p.Asp778Asn) rs730880895
NM_000257.4(MYH7):c.2348G>A (p.Arg783His) rs397516142
NM_000257.4(MYH7):c.2443C>T (p.Gln815Ter) rs1064797184
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys) rs2754158
NM_000257.4(MYH7):c.2761_2763del (p.Glu921del) rs1595081779
NM_000257.4(MYH7):c.3133C>T (p.Arg1045Cys) rs45611033
NM_000257.4(MYH7):c.3336+1G>C
NM_000257.4(MYH7):c.346-1G>A rs1057519221
NM_000257.4(MYH7):c.4145G>A (p.Arg1382Gln) rs727504325
NM_000257.4(MYH7):c.4261C>A (p.Leu1421Ile) rs1595075319
NM_000257.4(MYH7):c.599C>T (p.Ala200Val)
NM_000258.3(MYL3):c.170C>A (p.Ala57Asp) rs139794067
NM_000259.3(MYO5A):c.855dup (p.Asn286Ter) rs1555445508
NM_000260.4(MYO7A):c.137_138dup (p.Trp47fs) rs1057519225
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987
NM_000260.4(MYO7A):c.4037T>C (p.Phe1346Ser) rs767615975
NM_000260.4(MYO7A):c.4442-1G>C rs1485456037
NM_000260.4(MYO7A):c.4505A>G (p.Asp1502Gly) rs757460257
NM_000263.4(NAGLU):c.1291dup (p.Arg431fs)
NM_000263.4(NAGLU):c.680A>C (p.His227Pro) rs747155746
NM_000263.4(NAGLU):c.700C>G (p.Arg234Gly)
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter) rs104894592
NM_000264.5(PTCH1):c.114del (p.Leu39fs) rs751977093
NM_000264.5(PTCH1):c.1347+1G>C rs1588602262
NM_000264.5(PTCH1):c.3275T>A (p.Ile1092Lys) rs1588535471
NM_000264.5(PTCH1):c.3406G>C (p.Gly1136Arg)
NM_000264.5(PTCH1):c.591G>T (p.Trp197Cys)
NM_000267.3(NF1):c.2072T>G (p.Leu691Arg) rs1131691132
NM_000267.3(NF1):c.2125T>C (p.Cys709Arg) rs1131691095
NM_000267.3(NF1):c.2389del (p.Ala797fs) rs1555614016
NM_000267.3(NF1):c.2978T>G (p.Leu993Ter) rs1555614460
NM_000267.3(NF1):c.2T>A (p.Met1Lys) rs886041346
NM_000267.3(NF1):c.4342A>T (p.Lys1448Ter) rs1567862353
NM_000267.3(NF1):c.4343_4355del (p.Lys1448fs) rs1567862349
NM_000267.3(NF1):c.4728dup (p.Thr1577fs) rs1253123816
NM_000267.3(NF1):c.647T>G (p.Leu216Arg) rs199474756
NM_000267.3(NF1):c.79C>T (p.Gln27Ter) rs1060500363
NM_000271.5(NPC1):c.1883A>C (p.Tyr628Ser)
NM_000271.5(NPC1):c.2546G>T (p.Ser849Ile) rs1057519242
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg) rs80358254
NM_000272.4(NPHP1):c.2098G>C (p.Gly700Arg) rs760619900
NM_000273.3(GPR143):c.935G>T (p.Gly312Val)
NM_000274.3(OAT):c.772-1G>A rs770390524
NM_000275.3(OCA2):c.2079G>A (p.Glu693=) rs1374558186
NM_000276.4(OCRL):c.1570C>T (p.His524Tyr) rs1057521952
NM_000276.4(OCRL):c.2341+1G>A rs1602818783
NM_000277.3(PAH):c.169G>A (p.Glu57Lys) rs140945592
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679
NM_000277.3(PAH):c.956A>G (p.Glu319Gly) rs1592949408
NM_000280.4(PAX6):c.1088C>A (p.Ser363Ter) rs1411880763
NM_000280.4(PAX6):c.383G>T (p.Arg128Leu) rs1592531953
NM_000283.3(PDE6B):c.1107+3A>G rs370898371
NM_000283.3(PDE6B):c.1206C>G (p.Tyr402Ter) rs1553810330
NM_000283.3(PDE6B):c.886G>T (p.Glu296Ter) rs1064797304
NM_000284.4(PDHA1):c.624dup (p.Asn209fs)
NM_000285.4(PEPD):c.1345-1G>A rs1600069637
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426
NM_000287.4(PEX6):c.2875C>T (p.Gln959Ter) rs1437291000
NM_000289.6(PFKM):c.2078_2081dup (p.Ser694fs) rs1233958453
NM_000292.3(PHKA2):c.1325-2A>G rs1569310542
NM_000292.3(PHKA2):c.1490G>A (p.Arg497Gln)
NM_000292.3(PHKA2):c.2395del (p.His799fs) rs1555995689
NM_000292.3(PHKA2):c.505_509del (p.Val169fs)
NM_000293.3(PHKB):c.303C>G (p.Tyr101Ter)
NM_000297.4(PKD2):c.2240+1G>C
NM_000302.4(PLOD1):c.1903-2A>G rs1553137486
NM_000303.3(PMM2):c.91T>C (p.Phe31Leu) rs749720760
NM_000308.4(CTSA):c.73C>T (p.Arg25Ter)
NM_000314.7(PTEN):c.376G>A (p.Ala126Thr) rs1554898129
NM_000314.7(PTEN):c.801G>T (p.Lys267Asn) rs1554825266
NM_000314.8(PTEN):c.158T>C (p.Val53Ala)
NM_000314.8(PTEN):c.946_947del (p.Leu316fs)
NM_000322.5(PRPH2):c.331del (p.Ile111fs) rs1562434099
NM_000322.5(PRPH2):c.465_466insTC (p.Ile156fs) rs1554270806
NM_000322.5(PRPH2):c.628C>T (p.Pro210Ser) rs61755797
NM_000322.5(PRPH2):c.635G>C (p.Ser212Thr) rs61755801
NM_000322.5(PRPH2):c.692C>A (p.Ser231Ter) rs1554269046
NM_000322.5(PRPH2):c.948G>A (p.Trp316Ter) rs1554268521
NM_000328.3(RPGR):c.133G>T (p.Glu45Ter) rs1555968524
NM_000328.3(RPGR):c.1905+1176_1905+1186del rs1555961350
NM_000328.3(RPGR):c.1905+133_1905+151del rs1601924111
NM_000328.3(RPGR):c.1905+1468C>T rs1601917052
NM_000328.3(RPGR):c.1905+441del rs1064797365
NM_000328.3(RPGR):c.1905+505A>T rs1601922877
NM_000328.3(RPGR):c.1905+511G>T rs1555961787
NM_000328.3(RPGR):c.1905+666del rs1555961704
NM_000328.3(RPGR):c.1905+700G>T rs1555961677
NM_000328.3(RPGR):c.1905+742G>T rs1555961624
NM_000328.3(RPGR):c.1905+880G>T rs1057519236
NM_000328.3(RPGR):c.1905+959G>A rs1555961491
NM_000328.3(RPGR):c.1905+982del rs1064797364
NM_000328.3(RPGR):c.1905+990dup rs1569235999
NM_000328.3(RPGR):c.255del (p.Lys85fs) rs1555968248
NM_000329.3(RPE65):c.130C>T (p.Arg44Ter) rs368088025
NM_000330.3(RS1):c.366G>A (p.Trp122Ter) rs61752147
NM_000330.4(RS1):c.487T>G (p.Trp163Gly)
NM_000334.4(SCN4A):c.2065C>T (p.Leu689Phe) rs80338955
NM_000334.4(SCN4A):c.3898CAG[1] (p.Gln1301del) rs752135284
NM_000334.4(SCN4A):c.4783G>T (p.Ala1595Ser) rs761947899
NM_000335.5(SCN5A):c.4343A>T (p.Tyr1448Phe)
NM_000336.3(SCNN1B):c.833del (p.Gly278fs) rs1555489114
NM_000342.3(SLC4A1):c.2608C>T (p.Arg870Trp) rs28931585
NM_000350.3(ABCA4):c.1025_1038del (p.Asp342fs) rs63749083
NM_000350.3(ABCA4):c.1339C>T (p.Gln447Ter) rs886039882
NM_000350.3(ABCA4):c.1570A>G (p.Lys524Glu) rs1570394071
NM_000350.3(ABCA4):c.2023G>A (p.Val675Ile) rs575453437
NM_000350.3(ABCA4):c.2390T>C (p.Leu797Pro) rs61749432
NM_000350.3(ABCA4):c.2870A>G (p.Gln957Arg) rs61749448
NM_000350.3(ABCA4):c.2875A>T (p.Thr959Ser) rs368846708
NM_000350.3(ABCA4):c.2948C>T (p.Thr983Ile) rs61752411
NM_000350.3(ABCA4):c.3482G>A (p.Arg1161His) rs768278935
NM_000350.3(ABCA4):c.4070C>A (p.Ala1357Glu) rs552517556
NM_000350.3(ABCA4):c.4128G>C (p.Gln1376His) rs1064797113
NM_000350.3(ABCA4):c.4539+2064C>T rs1553189179
NM_000350.3(ABCA4):c.4739T>C (p.Leu1580Ser) rs777415466
NM_000350.3(ABCA4):c.4926C>A (p.Ser1642Arg)
NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala) rs121909207
NM_000350.3(ABCA4):c.5527C>T (p.Arg1843Trp) rs62642576
NM_000350.3(ABCA4):c.5753A>T (p.Asp1918Val)
NM_000350.3(ABCA4):c.5774G>T (p.Arg1925Ile) rs1208195953
NM_000350.3(ABCA4):c.6119G>C (p.Arg2040Pro) rs148460146
NM_000350.3(ABCA4):c.6232A>C (p.Lys2078Gln) rs951379922
NM_000350.3(ABCA4):c.6419T>G (p.Leu2140Arg) rs774475956
NM_000350.3(ABCA4):c.6816+2T>A rs112005636
NM_000355.4(TCN2):c.1223-1G>C
NM_000356.4(TCOF1):c.635_636del (p.Val212fs) rs1554133681
NM_000360.4(TH):c.292C>T (p.Arg98Ter) rs1057519220
NM_000360.4(TH):c.971C>T (p.Pro324Leu) rs777379609
NM_000361.3(THBD):c.399C>A (p.Cys133Ter) rs1347587434
NM_000368.4(TSC1):c.1029+2T>C rs1554817336
NM_000368.5(TSC1):c.1998-2A>C rs1057518217
NM_000369.4(TSHR):c.1835del (p.Gln612fs) rs1595179250
NM_000370.3(TTPA):c.645_646del (p.Glu216fs) rs1563678770
NM_000372.5(TYR):c.307T>C (p.Cys103Arg) rs1482829698
NM_000373.4(UMPS):c.870dup (p.Thr291fs) rs1579131415
NM_000377.3(WAS):c.1374del (p.Pro459fs) rs1602180020
NM_000380.4(XPA):c.545_546dup (p.Lys183Ter)
NM_000384.3(APOB):c.1000_1009del (p.Lys334fs) rs1572799243
NM_000384.3(APOB):c.2188G>A (p.Val730Ile)
NM_000390.4(CHM):c.1413G>A (p.Gln471=) rs1556257626
NM_000391.4(TPP1):c.617G>A (p.Arg206His) rs121908209
NM_000393.5(COL5A2):c.2391+5G>A rs1553514799
NM_000397.4(CYBB):c.1333T>C (p.Cys445Arg) rs782424820
NM_000397.4(CYBB):c.1571C>T (p.Ala524Val) rs1602185766
NM_000400.3(ERCC2):c.594+2_594+5del rs762309206
NM_000400.4(ERCC2):c.1707del (p.Ile569fs)
NM_000400.4(ERCC2):c.1927C>T (p.Gln643Ter)
NM_000404.4(GLB1):c.1784G>C (p.Arg595Pro)
NM_000404.4(GLB1):c.941T>G (p.Phe314Cys)
NM_000405.5(GM2A):c.413G>A (p.Cys138Tyr) rs1174735558
NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg) rs104893836
NM_000409.4(GUCA1A):c.443A>C (p.Asp148Ala) rs1554186472
NM_000414.4(HSD17B4):c.2179_2180del (p.Gln727fs) rs1057519212
NM_000414.4(HSD17B4):c.2179_2183delinsAAA (p.Gln727fs) rs1057519420
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096
NM_000426.3(LAMA2):c.1027+1G>A rs1064797327
NM_000426.3(LAMA2):c.4717+1G>T rs1131691660
NM_000426.3(LAMA2):c.5562+5G>C rs771046502
NM_000426.3(LAMA2):c.6985_6988del (p.Thr2329fs) rs1064797328
NM_000426.4(LAMA2):c.3172A>T (p.Lys1058Ter) rs1583447808
NM_000426.4(LAMA2):c.3667del (p.Asp1222_Leu1223insTer)
NM_000426.4(LAMA2):c.5195dup (p.Asn1732fs) rs747567057
NM_000431.4(MVK):c.634G>A (p.Gly212Arg) rs1555278380
NM_000431.4(MVK):c.943_944del (p.Leu315fs)
NM_000433.4(NCF2):c.1216dup (p.Ser406fs)
NM_000435.3(NOTCH3):c.1432T>A (p.Cys478Ser)
NM_000435.3(NOTCH3):c.1732C>T (p.Arg578Cys) rs769773673
NM_000435.3(NOTCH3):c.1774C>T (p.Arg592Cys) rs764148985
NM_000435.3(NOTCH3):c.2149C>T (p.Arg717Cys) rs144163298
NM_000435.3(NOTCH3):c.2182C>T (p.Arg728Cys) rs1057519101
NM_000435.3(NOTCH3):c.318C>G (p.Cys106Trp)
NM_000435.3(NOTCH3):c.376A>T (p.Ser126Cys) rs1555729534
NM_000435.3(NOTCH3):c.3878G>T (p.Cys1293Phe)
NM_000435.3(NOTCH3):c.932G>T (p.Cys311Phe) rs1555729346
NM_000440.3(PDE6A):c.1065+2T>A rs1554090012
NM_000440.3(PDE6A):c.1361del (p.Val454fs) rs1064797315
NM_000440.3(PDE6A):c.1955_1974dup (p.Ile659fs) rs773065850
NM_000440.3(PDE6A):c.2083C>T (p.Gln695Ter) rs1161389116
NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn) rs397516427
NM_000441.2(SLC26A4):c.365dup (p.Ile124fs) rs786204730
NM_000443.4(ABCB4):c.1283T>A (p.Val428Asp)
NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser) rs375315619
NM_000444.6(PHEX):c.367_370del (p.Ile123fs) rs1602273769
NM_000448.3(RAG1):c.2199T>A (p.Cys733Ter)
NM_000454.4(SOD1):c.115C>G (p.Leu39Val) rs121912432
NM_000454.4(SOD1):c.335dup (p.Cys112fs) rs1568810771
NM_000454.5(SOD1):c.343G>A (p.Gly115Ser)
NM_000455.4(STK11):c.869T>C (p.Leu290Pro) rs1057524439
NM_000465.4(BARD1):c.1216C>T (p.Arg406Ter) rs377153250
NM_000466.3(PEX1):c.2426del (p.Val808_Leu809insTer)
NM_000466.3(PEX1):c.3455_3456del (p.Ser1152fs) rs759183382
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) rs121918007
NM_000478.6(ALPL):c.661G>C (p.Gly221Arg) rs769020799
NM_000481.4(AMT):c.987del (p.Met330fs) rs1278265933
NM_000487.6(ARSA):c.1337del (p.Gly446fs) rs750030142
NM_000488.3(SERPINC1):c.244G>T (p.Glu82Ter) rs1557904209
NM_000488.3(SERPINC1):c.42-1G>C rs1572092195
NM_000488.3(SERPINC1):c.89T>A (p.Val30Glu) rs2227624
NM_000491.5(C1QB):c.400del (p.Leu134fs) rs1064797108
NM_000492.3(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111
NM_000493.4(COL10A1):c.1942G>C (p.Asp648His)
NM_000503.6(EYA1):c.1537C>A (p.Leu513Met)
NM_000507.4(FBP1):c.357T>A (p.Asp119Glu) rs765743651
NM_000515.5(GH1):c.178G>A (p.Ala60Thr)
NM_000516.6(GNAS):c.773G>A (p.Arg258Gln) rs1555891584
NM_000520.6(HEXA):c.1302C>G (p.Phe434Leu) rs202173526
NM_000520.6(HEXA):c.459+5G>A rs762060470
NM_000521.4(HEXB):c.1417+5G>A rs763517499
NM_000526.5(KRT14):c.40del (p.Ser13_Met14insTer) rs1567738332
NM_000527.4(LDLR):c.1414G>A (p.Asp472Asn) rs730882102
NM_000527.4(LDLR):c.1678A>T (p.Ile560Phe) rs1131692213
NM_000527.4(LDLR):c.1730G>A (p.Trp577Ter) rs138947766
NM_000527.5(LDLR):c.1061-2A>G rs879254773
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)
NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys) rs185098634
NM_000527.5(LDLR):c.1898G>A (p.Arg633His) rs754536745
NM_000527.5(LDLR):c.409G>A (p.Gly137Ser) rs730882082
NM_000530.8(MPZ):c.254G>C (p.Gly85Ala) rs1571819324
NM_000530.8(MPZ):c.266_270dup (p.Glu91fs) rs1553259697
NM_000533.5(PLP1):c.410G>T (p.Arg137Leu) rs1602382987
NM_000533.5(PLP1):c.543_551del (p.Trp181_Thr183del)
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys) rs267608161
NM_000539.3(RHO):c.44A>T (p.Asn15Ile)
NM_000539.3(RHO):c.979_980del (p.Pro327fs) rs1578281625
NM_000540.2(RYR1):c.131G>A (p.Arg44His) rs139161723
NM_000540.2(RYR1):c.14524G>A rs193922879
NM_000540.2(RYR1):c.14642T>C (p.Met4881Thr) rs1568605367
NM_000540.2(RYR1):c.15030T>A (p.Tyr5010Ter) rs1064797243
NM_000540.2(RYR1):c.4363del (p.Asp1455fs) rs1555777086
NM_000540.2(RYR1):c.5340_5341del (p.Cys1781fs) rs779723153
NM_000540.2(RYR1):c.5814+1G>A rs1057519173
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly) rs367543058
NM_000540.3(RYR1):c.11315G>T (p.Arg3772Leu) rs193922839
NM_000540.3(RYR1):c.14421CTT[2] (p.Phe4810del) rs1555803810
NM_000540.3(RYR1):c.14579T>C (p.Phe4860Ser) rs1599665128
NM_000540.3(RYR1):c.14761TTC[3] (p.Phe4924del) rs1064794572
NM_000540.3(RYR1):c.1655G>A (p.Arg552Gln)
NM_000540.3(RYR1):c.7007G>A (p.Arg2336His) rs112563513
NM_000540.3(RYR1):c.7124G>A (p.Gly2375Glu)
NM_000541.5(SAG):c.136+2T>G rs1233480483
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val) rs142787001
NM_000548.5(TSC2):c.4603G>C (p.Asp1535His)
NM_000548.5(TSC2):c.5260-1G>C rs1057518103
NM_000550.3(TYRP1):c.481A>T (p.Ile161Phe) rs1308562697
NM_000551.4(VHL):c.109G>T (p.Glu37Ter)
NM_000552.4(VWF):c.3797C>A (p.Pro1266Gln) rs61749370
NM_000552.4(VWF):c.7292G>A (p.Cys2431Tyr) rs1591838900
NM_000552.5(VWF):c.4047T>A (p.Tyr1349Ter)
NM_000553.6(WRN):c.1165del (p.Arg389fs) rs878854131
NM_000553.6(WRN):c.1578del (p.Leu528fs) rs780555196
NM_000553.6(WRN):c.2416del (p.Ile806fs)
NM_000553.6(WRN):c.348del (p.Met117fs) rs1563329555
NM_000554.6(CRX):c.100+2T>C rs281865198
NM_000554.6(CRX):c.122G>A (p.Arg41Gln) rs61748436
NM_000554.6(CRX):c.404del (p.Pro135fs) rs1064797246
NM_000554.6(CRX):c.663C>A (p.Tyr221Ter) rs1064797247
NM_000631.5(NCF4):c.118-1G>A rs28445840
NM_000642.3(AGL):c.659A>G (p.His220Arg) rs1557749651
NM_000702.4(ATP1A2):c.1096G>A (p.Gly366Ser) rs1553244883
NM_000702.4(ATP1A2):c.1261C>T (p.Arg421Ter) rs1165052640
NM_000702.4(ATP1A2):c.1817C>A (p.Ala606Glu) rs1553245183
NM_000702.4(ATP1A2):c.2066G>A (p.Arg689Gln) rs28933401
NM_000702.4(ATP1A2):c.2387C>G (p.Pro796Arg)
NM_000702.4(ATP1A2):c.2620G>A (p.Gly874Ser)
NM_000702.4(ATP1A2):c.848C>T (p.Ala283Val) rs1553244740
NM_000709.4(BCKDHA):c.467G>A (p.Gly156Asp) rs1555766066
NM_000717.5(CA4):c.368del (p.Tyr123fs) rs1597993822
NM_000719.7(CACNA1C):c.2284C>T (p.Leu762Phe)
NM_000719.7(CACNA1C):c.4087G>A (p.Val1363Met) rs1555968941
NM_000784.4(CYP27A1):c.33G>A (p.Trp11Ter) rs1319938730
NM_000784.4(CYP27A1):c.900del (p.Pro302fs)
NM_000789.4(ACE):c.58_63del (p.Leu21_Leu22del)
NM_000814.6(GABRB3):c.860C>A (p.Thr287Lys) rs1595440448
NM_000834.4(GRIN2B):c.2750C>T (p.Ser917Leu) rs1555102552
NM_000834.5(GRIN2B):c.1016del (p.Leu339fs)
NM_000834.5(GRIN2B):c.1177C>T (p.Arg393Ter)
NM_000836.4(GRIN2D):c.2041A>G (p.Met681Val)
NM_000836.4(GRIN2D):c.2511C>A (p.Ser837Arg)
NM_000878.5(IL2RB):c.388+1G>A
NM_000902.4(MME):c.1579C>T (p.Arg527Ter) rs781376762
NM_000902.4(MME):c.160+2T>C rs1446583831
NM_000903.3(NQO1):c.547C>T (p.Gln183Ter) rs1555537451
NM_000937.5(POLR2A):c.1462G>A (p.Val488Met)
NM_000937.5(POLR2A):c.3368G>T (p.Arg1123Leu) rs1597803120
NM_000944.5(PPP3CA):c.1271_1274dup (p.Leu426fs) rs1560570546
NM_000965.4(RARB):c.1210C>T (p.Gln404Ter) rs1575553547
NM_001001331.4(ATP2B2):c.1660-1G>A rs1575009907
NM_001001331.4(ATP2B2):c.2048dup (p.Glu684fs) rs1575005369
NM_001001547.3(CD36):c.1079T>G (p.Leu360Ter) rs56381858
NM_001001547.3(CD36):c.1144C>T (p.Gln382Ter)
NM_001002010.5(NT5C3A):c.895-2A>G rs1583884979
NM_001003694.2(BRPF1):c.2984G>A (p.Arg995His)
NM_001003694.2(BRPF1):c.704_705del (p.Glu235fs)
NM_001004334.4(GPR179):c.1573C>T (p.Arg525Ter) rs773022324
NM_001005242.3(PKP2):c.1498_1499insTT (p.Pro500fs) rs1318070848
NM_001005242.3(PKP2):c.1556+2T>C rs1592746270
NM_001005273.3(CHD3):c.4073-2A>C rs1567864750
NM_001008212.2(OPTN):c.403G>T (p.Glu135Ter) rs140599944
NM_001008537.3(NEXMIF):c.1123G>T (p.Glu375Ter)
NM_001008537.3(NEXMIF):c.694C>T (p.Gln232Ter)
NM_001009944.3(PKD1):c.12230_12239del (p.Ala4077fs) rs1555444715
NM_001009944.3(PKD1):c.12683G>C (p.Arg4228Pro) rs1064797205
NM_001009944.3(PKD1):c.155C>G (p.Ser52Trp)
NM_001009944.3(PKD1):c.7483T>A (p.Cys2495Ser)
NM_001009944.3(PKD1):c.971G>T (p.Arg324Leu) rs199476099
NM_001013838.3(CARMIL2):c.1071+1G>T rs1555539013
NM_001013838.3(CARMIL2):c.958+1G>A rs1567628294
NM_001014342.3(FLG2):c.3557del (p.Gly1185_Ser1186insTer) rs1570940216
NM_001015880.2(PAPSS2):c.1570dup (p.His524fs) rs1554869370
NM_001015880.2(PAPSS2):c.712C>T (p.Arg238Ter)
NM_001018005.2(TPM1):c.128T>C (p.Leu43Pro)
NM_001018115.3(FANCD2):c.3224+1G>T rs1468320596
NM_001018115.3(FANCD2):c.790C>T (p.Gln264Ter)
NM_001020658.2(PUM1):c.2518C>T (p.Arg840Trp)
NM_001024688.2(NBN):c.896del (p.Pro299fs) rs587781969
NM_001025366.3(VEGFA):c.19_22dup (p.Thr8fs) rs756155710
NM_001029883.3(PCARE):c.2380dup (p.Met794fs) rs1572827477
NM_001029896.2(WDR45):c.235+159C>G rs1602540060
NM_001029896.2(WDR45):c.766_794del (p.Asp257fs) rs1569523457
NM_001031726.3(C19orf12):c.238C>T (p.Gln80Ter) rs1064797235
NM_001032221.6(STXBP1):c.1105G>A (p.Glu369Lys)
NM_001032221.6(STXBP1):c.430G>T (p.Val144Phe)
NM_001032280.3(TFAP2A):c.533A>G (p.Lys178Arg) rs1561709465
NM_001033855.3(DCLRE1C):c.1157-1_1162dup rs1588896721
NM_001033855.3(DCLRE1C):c.201GTT[2] (p.Leu70del)
NM_001035.3(RYR2):c.120_135dup (p.Leu46fs)
NM_001035.3(RYR2):c.1240C>T (p.Arg414Cys) rs764698152
NM_001035.3(RYR2):c.14288A>G (p.Asn4763Ser) rs794728803
NM_001038603.3(MARVELD2):c.880_890del (p.Phe294fs) rs770042200
NM_001039523.3(CHRNA1):c.959G>C (p.Gly320Ala) rs1553469070
NM_001039591.3(USP9X):c.420G>T (p.Trp140Cys) rs1555919860
NM_001039591.3(USP9X):c.4406C>T (p.Pro1469Leu) rs1010165716
NM_001040142.2(SCN2A):c.1031C>T (p.Ala344Val)
NM_001040142.2(SCN2A):c.1313A>T (p.Glu438Val) rs1553569017
NM_001040142.2(SCN2A):c.2217G>A (p.Trp739Ter)
NM_001040142.2(SCN2A):c.2548C>T (p.Arg850Ter) rs1553578503
NM_001040142.2(SCN2A):c.2621T>C (p.Ile874Thr)
NM_001040142.2(SCN2A):c.3464_3468del (p.Glu1155fs) rs1574691534
NM_001040142.2(SCN2A):c.3850-3T>G
NM_001040142.2(SCN2A):c.4948C>T (p.Leu1650Phe)
NM_001040142.2(SCN2A):c.5317G>A (p.Ala1773Thr) rs796053162
NM_001040142.2(SCN2A):c.622G>A (p.Val208Met) rs1064796373
NM_001040424.3(PRDM15):c.2420G>A (p.Cys807Tyr)
NM_001042472.3(ABHD12):c.341dup (p.Leu114fs) rs1285567657
NM_001042492.3(NF1):c.-272G>A
NM_001042492.3(NF1):c.2953del (p.Gln985fs) rs1597716393
NM_001042492.3(NF1):c.5033A>C (p.Tyr1678Ser) rs1555533347
NM_001042492.3(NF1):c.587-3C>A
NM_001042492.3(NF1):c.6556_6557del (p.Ser2186fs)
NM_001042492.3(NF1):c.6704+1del rs1597844692
NM_001042492.3(NF1):c.6798del (p.Gln2266_Ile2267insTer)
NM_001042723.2(RYR1):c.4405C>T (p.Arg1469Trp) rs200546266
NM_001048174.2(MUTYH):c.1460_1463dup (p.Cys489fs) rs1570314279
NM_001048174.2(MUTYH):c.954G>A (p.Ser318=) rs372673338
NM_001069.3(TUBB2A):c.1247A>G (p.Asn416Ser) rs1561805651
NM_001069.3(TUBB2A):c.5G>T (p.Arg2Leu) rs1581499166
NM_001077350.3(NPRL3):c.189-2A>T rs1567142752
NM_001077365.2(POMT1):c.1552_1569delinsTGACGTCCTGCTGACG (p.Leu518_Arg523delinsTer) rs1564381395
NM_001077365.2(POMT1):c.1552del (p.Leu518fs) rs1453641005
NM_001077365.2(POMT1):c.728G>C (p.Arg243Pro) rs772980661
NM_001077415.3(CRELD1):c.959del (p.Gln320fs) rs759473511
NM_001077415.3(CRELD1):c.959dup (p.Cys321fs) rs1553600601
NM_001077490.2(GNAS):c.*334G>A
NM_001079668.3(NKX2-1):c.1003del (p.Ser335fs) rs1555349149
NM_001079668.3(NKX2-1):c.344del (p.Gly115fs) rs587776709
NM_001079668.3(NKX2-1):c.872C>T (p.Pro291Leu) rs1057519223
NM_001079818.3(ITGA6):c.442C>T (p.Arg148Ter)
NM_001079866.2(BCS1L):c.655+2T>C rs1575108396
NM_001079872.2(CUL4B):c.777-2dup
NM_001080449.3(DNA2):c.186_187del (p.Cys62_Glu63delinsTer) rs777604935
NM_001080449.3(DNA2):c.186_187dup (p.Glu63fs) rs777604935
NM_001080449.3(DNA2):c.2898del (p.Asp967fs) rs1590045526
NM_001080467.3(MYO5B):c.3858_3859insA (p.Ala1287fs) rs1598840811
NM_001080472.4(FITM2):c.200G>A (p.Trp67Ter)
NM_001080517.3(SETD5):c.1278_1287del (p.Pro427fs) rs1575449107
NM_001080517.3(SETD5):c.2644C>T (p.Arg882Ter) rs1553635637
NM_001081.3(CUBN):c.382C>T (p.Gln128Ter) rs374695194
NM_001081.3(CUBN):c.7001-1G>T rs764379478
NM_001083614.2(EARS2):c.320G>A (p.Arg107His) rs1021330566
NM_001083614.2(EARS2):c.814G>A (p.Ala272Thr) rs749912939
NM_001083619.3(GRIA2):c.967C>T (p.Arg323Ter)
NM_001083961.2(WDR62):c.2263del (p.His755fs) rs1064797237
NM_001083962.2(TCF4):c.1646C>G (p.Ser549Cys)
NM_001083962.2(TCF4):c.549+1G>T rs1555917396
NM_001085049.3(MRAS):c.203C>T (p.Thr68Ile) rs1576387876
NM_001085487.3(MYSM1):c.2271-2A>G rs1569692271
NM_001097577.3(ANG):c.61C>T (p.Pro21Ser) rs149672657
NM_001098.3(ACO2):c.2173dup (p.Thr725fs) rs1601938682
NM_001098816.3(TENM4):c.2349del (p.Glu784fs) rs1555080708
NM_001098816.3(TENM4):c.4895G>A (p.Arg1632His) rs199687168
NM_001099274.3(TINF2):c.865C>T (p.Pro289Ser) rs1555304055
NM_001100.3(ACTA1):c.402G>A (p.Met134Ile) rs1553255486
NM_001100.4(ACTA1):c.149G>T (p.Gly50Val)
NM_001100.4(ACTA1):c.455-2A>G rs112919437
NM_001100.4(ACTA1):c.455-2A>T
NM_001101.5(ACTB):c.1003C>T (p.Arg335Cys)
NM_001101.5(ACTB):c.1043C>T (p.Ser348Leu) rs886041309
NM_001101.5(ACTB):c.166G>A (p.Asp56Asn)
NM_001101.5(ACTB):c.583G>A (p.Glu195Lys)
NM_001101426.4(CRPPA):c.184del (p.Val62fs) rs1048457038
NM_001102608.2(COL6A6):c.3971-2A>G rs1553788733
NM_001110792.2(MECP2):c.1200A>C (p.Pro400=) rs797044732
NM_001110792.2(MECP2):c.1250_1263del (p.Pro417fs) rs1557135208
NM_001110792.2(MECP2):c.1282G>T (p.Glu428Ter) rs1057519216
NM_001110792.2(MECP2):c.433C>A (p.Arg145Ser) rs28934904
NM_001110792.2(MECP2):c.487G>T (p.Asp163Tyr) rs1557137042
NM_001111125.3(IQSEC2):c.2297+5G>C rs1602282739
NM_001111125.3(IQSEC2):c.2995C>T (p.Leu999Phe) rs1602268590
NM_001111125.3(IQSEC2):c.3279G>A (p.Ser1093=) rs1602260263
NM_001113378.2(FANCI):c.2457-2A>G
NM_001114636.1(FANCL):c.2T>C (p.Met1Thr) rs761291501
NM_001122659.3(EDNRB):c.158del (p.Leu53fs)
NM_001122659.3(EDNRB):c.878dup (p.Tyr293Ter) rs1064797177
NM_001122659.3(EDNRB):c.879dup (p.Thr294fs) rs1555290386
NM_001122769.3(LCA5):c.1444C>T (p.Arg482Ter) rs1182277140
NM_001122769.3(LCA5):c.574dup (p.Thr192fs) rs1057519136
NM_001126131.2(POLG):c.2890C>T (p.Arg964Cys) rs201477273
NM_001127178.3(PIGG):c.2625dup (p.Asp876fs) rs1491240980
NM_001127222.2(CACNA1A):c.1361G>A (p.Arg454Gln) rs561858384
NM_001127222.2(CACNA1A):c.1844G>A (p.Ser615Asn) rs1600292598
NM_001127222.2(CACNA1A):c.1946del (p.Asn649fs) rs1568518113
NM_001127222.2(CACNA1A):c.2551C>T (p.Gln851Ter) rs1600273534
NM_001127222.2(CACNA1A):c.2980G>T (p.Glu994Ter) rs1600271575
NM_001127222.2(CACNA1A):c.3411dup (p.Lys1138fs) rs746790849
NM_001127222.2(CACNA1A):c.3683C>T (p.Thr1228Met) rs1057518532
NM_001127222.2(CACNA1A):c.4090-3C>G rs1555745158
NM_001127222.2(CACNA1A):c.4941dup (p.Glu1648Ter)
NM_001127222.2(CACNA1A):c.5392T>C (p.Ser1798Pro) rs1568443280
NM_001127222.2(CACNA1A):c.5400+2T>C rs1057519197
NM_001127222.2(CACNA1A):c.5476del (p.His1826fs) rs1600127096
NM_001127222.2(CACNA1A):c.5529-1171G>A rs1555736262
NM_001127222.2(CACNA1A):c.6043G>T (p.Gly2015Ter) rs746848153
NM_001127222.2(CACNA1A):c.680T>G (p.Leu227Arg) rs1057522420
NM_001127222.2(CACNA1A):c.814T>C (p.Cys272Arg) rs1568569290
NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys) rs28931570
NM_001127713.1(ATL1):c.1308T>A (p.Asn436Lys) rs751796325
NM_001127713.1(ATL1):c.715C>T (p.Arg239Cys) rs119476046
NM_001127713.1(ATL1):c.757G>A (p.Val253Ile) rs864622520
NM_001128126.3(AP4S1):c.306+3006del rs563687343
NM_001128425.1(MUTYH):c.553C>T (p.Arg185Trp) rs750592289
NM_001128849.2(SMARCA4):c.2438C>T (p.Ser813Leu) rs1064795105
NM_001129.5(AEBP1):c.2T>A (p.Met1Lys)
NM_001129.5(AEBP1):c.739+2_739+3del
NM_001130004.2(ACTN1):c.2212C>G (p.Arg738Gly)
NM_001130438.3(SPTAN1):c.2701G>A (p.Glu901Lys) rs1305659962
NM_001130987.2(DYSF):c.404C>T (p.Pro135Leu) rs773837400
NM_001130987.2(DYSF):c.4462C>T (p.Gln1488Ter) rs886044411
NM_001130987.2(DYSF):c.5135del (p.Lys1712fs) rs1064797253
NM_001130987.2(DYSF):c.5139del (p.Phe1713fs) rs1057519132
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp) rs746243052
NM_001130987.2(DYSF):c.853C>T (p.Arg285Trp) rs149827237
NM_001134407.3(GRIN2A):c.1307G>T (p.Cys436Phe) rs1596494684
NM_001134407.3(GRIN2A):c.1643C>G (p.Ala548Gly)
NM_001134407.3(GRIN2A):c.1655C>A (p.Pro552Gln)
NM_001134407.3(GRIN2A):c.2179G>A (p.Ala727Thr) rs1555488144
NM_001134407.3(GRIN2A):c.3217del (p.Glu1073fs)
NM_001134673.4(NFIA):c.160_163del (p.Arg54fs) rs1570122721
NM_001134673.4(NFIA):c.243dup (p.Asp82fs)
NM_001134831.2(AHI1):c.2492+1G>A rs187245292
NM_001134831.2(AHI1):c.3032C>G (p.Ser1011Ter) rs777215595
NM_001135649.3(FOXI3):c.308del (p.Gly103fs)
NM_001142784.2(IL11RA):c.3G>A (p.Met1Ile) rs1470928377
NM_001142800.2(EYS):c.3878-2A>G rs752930400
NM_001142800.2(EYS):c.6528C>A (p.Tyr2176Ter) rs797045089
NM_001142800.2(EYS):c.8779T>C (p.Cys2927Arg) rs373203896
NM_001142800.2(EYS):c.8793_8796del (p.Gln2931fs) rs1554163919
NM_001142864.4(PIEZO1):c.5290G>T (p.Glu1764Ter)
NM_001145358.2(SIN3A):c.3199_3207dup (p.Met1067_Ile1069dup)
NM_001145358.2(SIN3A):c.3409C>T (p.Gln1137Ter)
NM_001145809.2(MYH14):c.1955del (p.Gly652fs)
NM_001148.6(ANK2):c.2944C>T (p.Arg982Ter) rs1588354762
NM_001159773.2(CANT1):c.643G>A (p.Glu215Lys) rs773215035
NM_001160036.2(RHOBTB2):c.1519C>T (p.Arg507Cys) rs1563292586
NM_001160372.4(TRAPPC9):c.943_944del (p.Lys315fs) rs1588295226
NM_001161352.2(KCNMA1):c.2593C>T (p.Arg865Cys) rs1591664697
NM_001163809.2(WDR81):c.1189C>T (p.Arg397Ter)
NM_001164665.2(KIAA1549):c.3993del (p.Gln1332fs) rs1554417054
NM_001165963.4(SCN1A):c.1072C>A (p.Pro358Thr) rs121917923
NM_001165963.4(SCN1A):c.1096G>C (p.Asp366His) rs750209664
NM_001165963.4(SCN1A):c.2585G>T (p.Arg862Leu)
NM_001165963.4(SCN1A):c.266del (p.Thr89fs) rs1064797266
NM_001165963.4(SCN1A):c.2691G>C (p.Leu897Phe)
NM_001165963.4(SCN1A):c.2816A>C (p.His939Pro)
NM_001165963.4(SCN1A):c.314C>T (p.Thr105Ile) rs796053089
NM_001165963.4(SCN1A):c.3660del (p.Phe1220fs) rs1553532582
NM_001165963.4(SCN1A):c.3698G>A (p.Gly1233Asp) rs1553532470
NM_001165963.4(SCN1A):c.3817G>C (p.Ala1273Pro) rs398123592
NM_001165963.4(SCN1A):c.3926T>G (p.Leu1309Arg) rs1553529527
NM_001165963.4(SCN1A):c.4787G>A (p.Arg1596His) rs575368466
NM_001165963.4(SCN1A):c.4852+2T>A
NM_001165963.4(SCN1A):c.4859T>C (p.Phe1620Ser) rs1317010570
NM_001165963.4(SCN1A):c.4906del (p.Arg1636fs) rs1553520483
NM_001165963.4(SCN1A):c.5468T>C (p.Met1823Thr) rs1559101839
NM_001165963.4(SCN1A):c.5615del (p.Thr1872fs) rs1553520001
NM_001165963.4(SCN1A):c.655A>G (p.Arg219Gly)
NM_001165963.4(SCN1A):c.667G>C (p.Ala223Pro) rs1553550552
NM_001165963.4(SCN1A):c.749T>A (p.Val250Glu) rs1553549845
NM_001165963.4(SCN1A):c.986G>T (p.Gly329Val) rs779184118
NM_001170535.3(ATAD3A):c.158C>T (p.Thr53Ile) rs1057517687
NM_001170629.2(CHD8):c.1690C>T (p.Arg564Ter) rs1057524677
NM_001170629.2(CHD8):c.2845G>T (p.Glu949Ter) rs1555315488
NM_001171.5(ABCC6):c.1526C>G (p.Ala509Gly) rs779408186
NM_001172477.1(RRM2B):c.1006-2A>G rs1441534206
NM_001172509.2(SATB2):c.1593C>A (p.Asn531Lys)
NM_001172509.2(SATB2):c.1946C>T (p.Ser649Leu) rs746319722
NM_001172509.2(SATB2):c.305del (p.Leu102fs) rs1553504273
NM_001174147.2(LMX1B):c.784G>A (p.Val262Met) rs1588307464
NM_001174150.2(ARL13B):c.599G>A (p.Arg200His) rs764109067
NM_001178010.2(CDC45):c.1756C>T (p.Arg586Trp) rs778665661
NM_001182.5(ALDH7A1):c.1232C>T (p.Pro411Leu) rs780233639
NM_001182.5(ALDH7A1):c.566G>A (p.Gly189Glu)
NM_001184.4(ATR):c.6319+2T>C rs1577513795
NM_001184.4(ATR):c.7761+2T>C rs1577488520
NM_001184880.2(PCDH19):c.1681C>G (p.Pro561Ala) rs1569314471
NM_001184880.2(PCDH19):c.1720G>T (p.Glu574Ter) rs1064797376
NM_001184880.2(PCDH19):c.865_868del (p.Phe289fs) rs1064797377
NM_001184880.2(PCDH19):c.927del (p.His310fs) rs1555985389
NM_001190737.2(NFIB):c.115C>T (p.Arg39Cys) rs1588253471
NM_001190737.2(NFIB):c.734del (p.Pro245fs) rs1587053767
NM_001190737.2(NFIB):c.83C>T (p.Ala28Val)
NM_001193416.3(DDX3X):c.1463G>A (p.Arg488His) rs796052235
NM_001195248.2(APTX):c.-5+1G>T rs146487634
NM_001195248.2(APTX):c.353C>G (p.Ser118Ter) rs1563967576
NM_001195263.2(PDZD7):c.2006-2A>G
NM_001195553.2(DCX):c.167G>T (p.Arg56Leu)
NM_001195553.2(DCX):c.305G>A (p.Arg102His) rs267606317
NM_001195553.2(DCX):c.601A>T (p.Lys201Ter)
NM_001197104.1(KMT2A):c.478C>T (p.Arg160Ter) rs1555034779
NM_001197104.2(KMT2A):c.4177dup (p.Ile1393fs) rs1591388321
NM_001199107.2(TBC1D24):c.1544C>T (p.Ala515Val) rs267607105
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His) rs200324356
NM_001199138.2(NLRC4):c.1329C>G (p.His443Gln) rs1573493407
NM_001199298.2(UIMC1):c.1677-1G>A rs766633588
NM_001199563.2(BVES):c.457C>T (p.Gln153Ter) rs1562137622
NM_001199753.2(CPT1C):c.1655G>T (p.Gly552Val) rs1486248764
NM_001199973.2(RPL36A-HNRNPH2):c.300+2594C>T rs1555984843
NM_001200.4(BMP2):c.613_625del (p.Glu205fs)
NM_001201543.2(FAM161A):c.1205C>G (p.Ser402Ter) rs1553354522
NM_001201543.2(FAM161A):c.1212T>A (p.Cys404Ter) rs4672457
NM_001201543.2(FAM161A):c.847C>T (p.Arg283Ter) rs748847284
NM_001202.6(BMP4):c.635G>A (p.Trp212Ter) rs1594792712
NM_001206999.2(CIT):c.1070A>G (p.His357Arg)
NM_001231.5(CASQ1):c.1039G>T (p.Gly347Ter) rs150143470
NM_001231.5(CASQ1):c.790del (p.Thr263_Leu264insTer) rs773153762
NM_001242.5(CD27):c.154del (p.Asp52fs)
NM_001242896.3(DEPDC5):c.1550_1565dup (p.Asp522delinsGluGluProGlyPheTer)
NM_001242896.3(DEPDC5):c.2413del (p.Gln805fs)
NM_001242896.3(DEPDC5):c.2633+2T>A
NM_001242897.2(DEPDC5):c.1474C>T (p.Arg492Ter) rs1057519107
NM_001242897.2(DEPDC5):c.4219+1G>A rs1555942720
NM_001242957.3(MAK):c.1366_1367del (p.Lys456fs) rs935003657
NM_001242957.3(MAK):c.1700_1703del (p.Asn567fs) rs1347914291
NM_001243279.3(ACSF3):c.1081G>A (p.Gly361Ser) rs145285434
NM_001243279.3(ACSF3):c.1378dup (p.Val460fs) rs751342087
NM_001253852.3(AP4B1):c.1557T>A (p.Tyr519Ter) rs529495094
NM_001254.4(CDC6):c.597C>G (p.Tyr199Ter) rs200468440
NM_001254752.1(UQCRB):c.*24G>T rs1554577679
NM_001256545.2(MEGF10):c.1976-1G>A rs1057519152
NM_001256545.2(MEGF10):c.2857-2A>G rs199750143
NM_001256789.3(CACNA1F):c.2086-2A>G rs1358925739
NM_001256789.3(CACNA1F):c.3236+1G>A rs1064797371
NM_001257180.2(SLC20A2):c.1710-1G>A rs1554546372
NM_001267550.2(TTN):c.100446dup (p.Glu33483fs) rs878854281
NM_001267550.2(TTN):c.101494del (p.Ile33832fs) rs1559044465
NM_001267550.2(TTN):c.105810dup (p.Pro35271fs) rs1553484602
NM_001267550.2(TTN):c.105957G>A (p.Trp35319Ter) rs1575219172
NM_001267550.2(TTN):c.106259del (p.Pro35420fs)
NM_001267550.2(TTN):c.11183dup (p.Leu3729fs) rs778172350
NM_001267550.2(TTN):c.13058del (p.Pro4353fs) rs1408345511
NM_001267550.2(TTN):c.13807del (p.Glu4603fs) rs1574066113
NM_001267550.2(TTN):c.22973C>G (p.Ser7658Ter) rs1553908254
NM_001267550.2(TTN):c.28001G>A (p.Trp9334Ter) rs1057519160
NM_001267550.2(TTN):c.30253C>T (p.Gln10085Ter) rs1057519237
NM_001267550.2(TTN):c.3034C>T (p.Arg1012Ter) rs397517547
NM_001267550.2(TTN):c.34407del (p.Lys11470fs)
NM_001267550.2(TTN):c.35794G>T (p.Glu11932Ter) rs878854299
NM_001267550.2(TTN):c.35876-2A>G rs1577134819
NM_001267550.2(TTN):c.47794_47797del (p.Tyr15932fs)
NM_001267550.2(TTN):c.4815-2A>G
NM_001267550.2(TTN):c.52021C>T (p.Arg17341Ter) rs926741242
NM_001267550.2(TTN):c.57558del (p.Val19187fs) rs1576186406
NM_001267550.2(TTN):c.58870C>T (p.Arg19624Ter) rs1553649171
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter) rs397517689
NM_001267550.2(TTN):c.72829_72830del (p.Leu24277fs) rs1575772888
NM_001267550.2(TTN):c.83439T>G (p.Tyr27813Ter)
NM_001267550.2(TTN):c.86184del (p.Asn28729fs) rs1575608312
NM_001267550.2(TTN):c.91571dup (p.Ile30525fs)
NM_001267550.2(TTN):c.99187_99205del (p.Leu33063fs)
NM_001267550.2(TTN):c.99762del (p.Val33255fs) rs1575325335
NM_001270508.2(TNFAIP3):c.163C>T (p.Gln55Ter)
NM_001270974.2(HYDIN):c.14742C>G (p.Tyr4914Ter)
NM_001270974.2(HYDIN):c.2387T>G (p.Leu796Ter)
NM_001271.4(CHD2):c.1719G>A (p.Thr573=) rs1057519228
NM_001271.4(CHD2):c.1934C>T (p.Thr645Met)
NM_001271.4(CHD2):c.3735del (p.Lys1245fs) rs752940775
NM_001271.4(CHD2):c.4971G>A (p.Trp1657Ter) rs398122998
NM_001271208.2(NEB):c.22695+2T>C rs200449517
NM_001271208.2(NEB):c.3858C>A (p.Cys1286Ter) rs1386238241
NM_001271208.2(NEB):c.4507-2A>G rs1575668113
NM_001273.5(CHD4):c.3518G>A (p.Arg1173Gln)
NM_001277115.2(DNAH11):c.2T>G (p.Met1Arg) rs1355068287
NM_001277115.2(DNAH11):c.6895G>T (p.Glu2299Ter) rs1156473739
NM_001277115.2(DNAH11):c.7646-1G>T rs1327282449
NM_001277115.2(DNAH11):c.9244A>T (p.Lys3082Ter) rs1057519105
NM_001277269.1(OTOG):c.2500C>T (p.Gln834Ter) rs554847663
NM_001277269.1(OTOG):c.5020G>T (p.Gly1674Ter) rs1407028917
NM_001278074.1(COL5A1):c.2765G>T (p.Gly922Val) rs1564463870
NM_001278116.2(L1CAM):c.400+5G>A rs1569544908
NM_001278293.3(ARL6):c.249T>A (p.Tyr83Ter) rs888140182
NM_001278512.2(AP3B2):c.1501C>T (p.Arg501Ter)
NM_001281463.1(SMC1A):c.1409A>G (p.Gln470Arg) rs1556890139
NM_001282386.1(IDH1):c.394C>T (p.Arg132Cys) rs121913499
NM_001284214.2(TRIP12):c.4614+5G>A rs1575023205
NM_001287491.2(TET3):c.2731C>G (p.Arg911Gly)
NM_001288705.3(CSF1R):c.2375C>A (p.Ala792Asp) rs1581280059
NM_001288705.3(CSF1R):c.2471C>G (p.Pro824Arg)
NM_001289864.2(PER3):c.-209_-205del rs1558401132
NM_001290277.1(RARB):c.787-81G>A rs1553637463
NM_001292063.2(OTOG):c.1666C>T (p.Gln556Ter)
NM_001297.5(CNGB1):c.2794+1G>A rs770011113
NM_001298.3(CNGA3):c.1810C>T (p.Gln604Ter) rs753692812
NM_001298.3(CNGA3):c.548G>A (p.Trp183Ter) rs1064797258
NM_001303256.3(MORC2):c.286C>G (p.Gln96Glu) rs749060708
NM_001303256.3(MORC2):c.328C>T (p.Arg110Cys)
NM_001304718.2(PTEN):c.-639T>G rs876661244
NM_001304718.2(PTEN):c.-687G>T rs1554890335
NM_001319945.2(G6PC3):c.*50C>T
NM_001320.7(CSNK2B):c.1A>G (p.Met1Val)
NM_001321336.1(SPATA22):c.-74+18981A>C rs145085349
NM_001323289.2(CDKL5):c.2876C>G (p.Ala959Gly) rs1602300882
NM_001323289.2(CDKL5):c.343T>A (p.Tyr115Asn) rs1602271643
NM_001323289.2(CDKL5):c.520del (p.Thr174fs) rs1602274251
NM_001323289.2(CDKL5):c.611T>G (p.Leu204Arg) rs1602276088
NM_001323289.2(CDKL5):c.898C>T (p.Gln300Ter) rs1602282692
NM_001330078.2(NRXN1):c.1551_1555del (p.Ile517_Leu518insTer) rs1558925686
NM_001330260.2(SCN8A):c.1141C>T (p.Arg381Ter) rs1057519210
NM_001330260.2(SCN8A):c.1603A>T (p.Arg535Ter) rs1555219864
NM_001330260.2(SCN8A):c.56_57del (p.Pro19fs)
NM_001330260.2(SCN8A):c.614C>T (p.Ala205Val) rs796053233
NM_001330260.2(SCN8A):c.979A>C (p.Ser327Arg)
NM_001330288.2(SMARCC2):c.3210_3211insAAG (p.Val1071_Pro1072insLys)
NM_001330301.2(SAP130):c.181C>T (p.Gln61Ter) rs1573847394
NM_001330368.2(C11orf65):c.640+20560C>A rs587781894
NM_001330677.2(TBX15):c.990del (p.Phe331fs) rs1571155763
NM_001330691.3(CEP78):c.1070-5A>G rs1014151821
NM_001330691.3(CEP78):c.401_404del (p.Glu134fs) rs1273366435
NM_001330723.2(SNX27):c.703C>T (p.Arg235Ter)
NM_001346754.2(PIGW):c.617_620del (p.Val206fs) rs753385776
NM_001348800.3(ZBTB20):c.1813C>T (p.Pro605Ser) rs1576220959
NM_001349253.2(SCN11A):c.665G>A (p.Arg222His)
NM_001351762.2(TRMT1):c.-382_-381del rs868289171
NM_001353214.3(DYM):c.1126-2A>G
NM_001353345.2(SETD1B):c.955_958dup (p.Ala320fs)
NM_001353921.2(ARHGEF9):c.1078-1G>A
NM_001354604.2(MITF):c.1180-2A>G rs1064797294
NM_001354604.2(MITF):c.915dup (p.Leu306fs)
NM_001355436.2(SPTB):c.566+1G>A
NM_001356.4(DDX3X):c.744C>T (p.Gly248=) rs1569238002
NM_001356.4(DDX3X):c.822_824del (p.Thr275del) rs1569238251
NM_001356.5(DDX3X):c.389_393del (p.Lys130fs)
NM_001356.5(DDX3X):c.79C>T (p.Gln27Ter) rs1602119250
NM_001358530.2(MOCS1):c.394C>T (p.Arg132Trp) rs377167949
NM_001363711.2(DUOX2):c.3328C>T (p.Arg1110Ter)
NM_001363711.2(DUOX2):c.925del (p.Thr309fs)
NM_001364905.1(LRBA):c.6607C>T (p.Arg2203Ter) rs1206185362
NM_001364905.1(LRBA):c.7849+2T>C rs1553996145
NM_001364905.1(LRBA):c.839del (p.Lys280fs) rs1553998602
NM_001365068.1(ASTN2):c.2806+26922del rs759376012
NM_001365276.2(TNXB):c.3288del (p.Gln1095_Tyr1096insTer)
NM_001365276.2(TNXB):c.3762_3763dup (p.Arg1255fs) rs765028734
NM_001365999.1(SZT2):c.5905C>T (p.Arg1969Ter)
NM_001365999.1(SZT2):c.750dup (p.Leu251fs)
NM_001366385.1(CARD14):c.681T>G (p.Tyr227Ter) rs369755459
NM_001367561.1(DOCK7):c.1801-1593_1801-1590del rs1571649028
NM_001367561.1(DOCK7):c.1872-6A>T rs756259590
NM_001367561.1(DOCK7):c.1872-6del rs1161370391
NM_001367561.1(DOCK7):c.5049del (p.Pro1684fs) rs1064797112
NM_001367561.1(DOCK7):c.5634+1G>A
NM_001367721.1(CASK):c.1466G>A (p.Arg489Gln) rs1602292076
NM_001367721.1(CASK):c.36C>A (p.Tyr12Ter) rs1021128001
NM_001369268.1(ACAN):c.1329G>A (p.Trp443Ter)
NM_001369268.1(ACAN):c.2188del (p.Ile729_Leu730insTer) rs1555455284
NM_001370100.5(ZMYND11):c.1388_1389del (p.Cys463fs)
NM_001370466.1(NOD2):c.1678C>T (p.Arg560Cys) rs104895479
NM_001371279.1(REEP1):c.105+1G>A rs1064797257
NM_001371596.2(MFSD8):c.415C>T (p.Arg139Cys)
NM_001371928.1(AHDC1):c.3301C>T (p.Gln1101Ter)
NM_001371986.1(UNC80):c.8511C>A (p.Cys2837Ter)
NM_001372044.2(SHANK3):c.4556_4559dup (p.Gln1520fs)
NM_001372044.2(SHANK3):c.5197C>T (p.Arg1733Ter)
NM_001372044.2(SHANK3):c.5227T>C (p.Trp1743Arg)
NM_001374736.1(DST):c.17854G>T (p.Glu5952Ter) rs1341890249
NM_001374828.1(ARID1B):c.1781del (p.Gly594fs)
NM_001376.5(DYNC1H1):c.10213A>C (p.Met3405Leu)
NM_001376.5(DYNC1H1):c.1741A>T (p.Met581Leu) rs1566999047
NM_001376.5(DYNC1H1):c.1998A>T (p.Glu666Asp) rs1595600991
NM_001376.5(DYNC1H1):c.3188T>C (p.Met1063Thr)
NM_001376.5(DYNC1H1):c.3280G>T (p.Asp1094Tyr)
NM_001377.3(DYNC2H1):c.2346-5T>G
NM_001377.3(DYNC2H1):c.7085A>G (p.Asn2362Ser)
NM_001378120.1(MBD5):c.4809dup (p.Ser1604fs)
NM_001378969.1(KCND3):c.1489_1490del (p.Leu497fs)
NM_001379403.1(WDR26):c.736CTC[1] (p.Leu247del)
NM_001399.5(EDA):c.447del (p.Glu150fs) rs1602564282
NM_001429.4(EP300):c.1164C>A (p.Cys388Ter) rs1555907286
NM_001453.3(FOXC1):c.290AGA[1] (p.Lys98del) rs1581373693
NM_001458.4(FLNC):c.2795dup (p.Tyr932Ter) rs1562995883
NM_001458.4(FLNC):c.584T>G (p.Val195Gly)
NM_001458.5(FLNC):c.7195del (p.Val2399fs)
NM_001466.4(FZD2):c.1301G>C (p.Gly434Ala)
NM_001467.6(SLC37A4):c.238_239del (p.Phe80fs) rs1555191595
NM_001467.6(SLC37A4):c.612dup (p.Glu205Ter) rs1555191211
NM_001486.4(GCKR):c.1135dup (p.Thr379fs)
NM_001492.6(GDF1):c.909dup (p.Val304fs) rs606231383
NM_001540.5(HSPB1):c.287del (p.Arg96fs)
NM_001540.5(HSPB1):c.407G>A (p.Arg136Gln) rs863225022
NM_001540.5(HSPB1):c.438dup (p.Gly147fs)
NM_001557.4(CXCR2):c.472A>T (p.Lys158Ter) rs1574542732
NM_001558.4(IL10RA):c.170A>G (p.Tyr57Cys) rs201643277
NM_001563.4(IMPG1):c.1291+1G>T rs1433546528
NM_001563.4(IMPG1):c.378G>A (p.Trp126Ter) rs373792616
NM_001673.5(ASNS):c.1084T>G (p.Phe362Val) rs398122973
NM_001690.4(ATP6V1A):c.716+1G>T rs755278709
NM_001692.4(ATP6V1B1):c.910-1G>C rs1572922954
NM_001698.3(AUH):c.150G>A (p.Trp50Ter) rs1587943560
NM_001733.7(C1R):c.926G>A (p.Cys309Tyr) rs1555164437
NM_001754.5(RUNX1):c.968-10C>A
NM_001791.4(CDC42):c.101C>A (p.Pro34Gln)
NM_001791.4(CDC42):c.124G>A (p.Val42Ile) rs1057518022
NM_001844.5(COL2A1):c.1708G>C (p.Gly570Arg) rs1064797167
NM_001844.5(COL2A1):c.1888G>A (p.Gly630Ser)
NM_001844.5(COL2A1):c.3527G>A (p.Gly1176Asp) rs1592197752
NM_001844.5(COL2A1):c.376-1G>A
NM_001844.5(COL2A1):c.430-23_441del
NM_001844.5(COL2A1):c.519del (p.Gly174fs) rs1592235124
NM_001845.6(COL4A1):c.2959G>A (p.Gly987Arg) rs1566351456
NM_001845.6(COL4A1):c.2T>A (p.Met1Lys) rs1555318328
NM_001845.6(COL4A1):c.3932G>A (p.Gly1311Glu)
NM_001846.4(COL4A2):c.3170dup (p.Gly1058fs) rs969435078
NM_001846.4(COL4A2):c.4357G>T (p.Gly1453Ter) rs1555333626
NM_001846.4(COL4A2):c.913-1G>A rs1064797180
NM_001848.2(COL6A1):c.1021G>C (p.Gly341Arg) rs886043321
NM_001848.2(COL6A1):c.738G>A (p.Val246=) rs1064797287
NM_001848.2(COL6A1):c.904-2A>G rs1057519174
NM_001849.3(COL6A2):c.2133C>G (p.Tyr711Ter) rs531816975
NM_001849.3(COL6A2):c.2627G>A (p.Arg876His) rs1012567148
NM_001849.3(COL6A2):c.855+1G>C rs1057517988
NM_001849.4(COL6A2):c.1135G>A (p.Gly379Arg)
NM_001851.5(COL9A1):c.188del (p.Phe63fs) rs1057519130
NM_001851.5(COL9A1):c.1965dup (p.Pro656fs) rs1064797325
NM_001851.5(COL9A1):c.1970dup (p.Gly658fs) rs1322800124
NM_001851.5(COL9A1):c.876+2T>A rs149830493
NM_001852.4(COL9A2):c.1053+1G>A rs1064797109
NM_001852.4(COL9A2):c.1332del (p.Val446fs) rs1557793484
NM_001853.4(COL9A3):c.1739dup (p.Gly581fs)
NM_001854.4(COL11A1):c.2295+1G>C
NM_001854.4(COL11A1):c.3978+2T>G rs1570712875
NM_001854.4(COL11A1):c.4302+2T>C rs1553196233
NM_001854.4(COL11A1):c.652-1G>C rs1064797115
NM_001868.4(CPA1):c.768C>G (p.Asn256Lys)
NM_001876.4(CPT1A):c.1966C>G (p.His656Asp) rs1405682081
NM_001904.4(CTNNB1):c.1550_1570del (p.Leu517_Asn523del)
NM_001927.4(DES):c.973C>T (p.Arg325Ter)
NM_001939.2(DRP2):c.379del (p.Ala127fs) rs753185936
NM_001939.2(DRP2):c.973C>T (p.Gln325Ter) rs1556419606
NM_001942.4(DSG1):c.1684G>A (p.Gly562Arg)
NM_001943.5(DSG2):c.1938del (p.Ile647fs)
NM_001943.5(DSG2):c.2434G>A (p.Gly812Ser) rs121913010
NM_001943.5(DSG2):c.2595dup (p.Ala866fs) rs1598826658
NM_001943.5(DSG2):c.3036_3037insG (p.Tyr1013fs)
NM_001953.5(TYMP):c.274del (p.Thr92fs)
NM_001953.5(TYMP):c.622G>A (p.Val208Met) rs121913039
NM_001953.5(TYMP):c.996_1026del (p.Ala333fs)
NM_001958.4(EEF1A2):c.370G>A (p.Glu124Lys) rs886042041
NM_001972.4(ELANE):c.136_141del (p.Ser46_Leu47del) rs1555709349
NM_001982.3(ERBB3):c.2274+1G>A rs1057519169
NM_001983.4(ERCC1):c.155C>A (p.Ser52Ter) rs149666093
NM_001983.4(ERCC1):c.199C>T (p.Gln67Ter) rs1454398092
NM_001999.4(FBN2):c.3136A>G (p.Lys1046Glu)
NM_002024.6(FMR1):c.104+5G>C
NM_002055.5(GFAP):c.205G>A (p.Glu69Lys) rs797044570
NM_002056.4(GFPT1):c.331C>T (p.Arg111Cys) rs201322234
NM_002085.5(GPX4):c.153_160del (p.Gly51_His52insTer) rs1599808202
NM_002087.3(GRN):c.-8+3A>G rs63751020
NM_002087.3(GRN):c.708+1G>A rs63749817
NM_002087.3(GRN):c.708+6_708+9del rs778599933
NM_002107.6(H3-3A):c.377A>G (p.Gln126Arg) rs1276519904
NM_002109.6(HARS1):c.90+1G>C rs1554109203
NM_002110.4(HCK):c.1555G>T (p.Glu519Ter) rs1600755957
NM_002133.3(HMOX1):c.55dup (p.Glu19fs) rs1601739478
NM_002160.4(TNC):c.4172A>G (p.Gln1391Arg) rs1057519148
NM_002181.4(IHH):c.543del (p.Glu181fs)
NM_002184.4(IL6ST):c.974-1_978del
NM_002206.3(ITGA7):c.2761C>T (p.Gln921Ter) rs767943997
NM_002222.6(ITPR1):c.100G>A (p.Asp34Asn) rs1575397455
NM_002222.6(ITPR1):c.107G>A (p.Arg36His) rs1057518026
NM_002222.6(ITPR1):c.5290C>T (p.Arg1764Ter) rs1249951465
NM_002230.4(JUP):c.475G>T (p.Val159Leu) rs782702266
NM_002317.7(LOX):c.545del (p.Pro182fs) rs1372924173
NM_002317.7(LOX):c.960dup (p.Ala321fs)
NM_002335.4(LRP5):c.2457C>G (p.Tyr819Ter) rs1057519127
NM_002335.4(LRP5):c.3446T>A (p.Leu1149Gln) rs200389686
NM_002335.4(LRP5):c.4574C>T (p.Ala1525Val) rs1127291
NM_002335.4(LRP5):c.480del (p.Ala161fs) rs1057519126
NM_002382.5(MAX):c.262del (p.Leu88fs) rs1595130972
NM_002397.5(MEF2C):c.13_14del (p.Lys5fs) rs1554150590
NM_002397.5(MEF2C):c.14del (p.Lys5fs) rs1554150590
NM_002397.5(MEF2C):c.258+1G>T rs1064797310
NM_002430.3(MN1):c.3883C>T (p.Arg1295Ter) rs147334255
NM_002435.3(MPI):c.1064_1065del (p.Ser355fs)
NM_002437.5(MPV17):c.185del (p.Val62fs) rs755624411
NM_002439.5(MSH3):c.1035del (p.Pro346_Leu347insTer) rs1580553607
NM_002454.3(MTRR):c.324del (p.Lys109fs) rs1189298981
NM_002470.4(MYH3):c.1838C>T (p.Ser613Phe)
NM_002471.3(MYH6):c.4369G>A (p.Glu1457Lys) rs267606905
NM_002473.5(MYH9):c.32_33del (p.Tyr11fs) rs1556642578
NM_002473.6(MYH9):c.5785del (p.Val1929fs)
NM_002474.3(MYH11):c.4279C>T (p.Gln1427Ter) rs1596730121
NM_002474.3(MYH11):c.5083-1G>A rs1596712899
NM_002491.3(NDUFB3):c.201del (p.Phe68fs) rs747403932
NM_002501.4(NFIX):c.154G>T (p.Glu52Ter) rs1555696499
NM_002524.5(NRAS):c.127C>T (p.Gln43Ter) rs1553244454
NM_002547.3(OPHN1):c.1025+2T>C rs1602231145
NM_002547.3(OPHN1):c.1105-1G>T rs1555951715
NM_002547.3(OPHN1):c.1256del (p.Lys419fs) rs1602225800
NM_002547.3(OPHN1):c.1277-1G>C rs1064797373
NM_002576.5(PAK1):c.428T>A (p.Met143Lys)
NM_002585.4(PBX1):c.265+2_265+5del
NM_002608.4(PDGFB):c.457-1G>C rs1601596820
NM_002693.2(POLG):c.2563G>T (p.Val855Leu) rs771254207
NM_002693.2(POLG):c.2605C>T (p.Arg869Ter) rs751376824
NM_002693.2(POLG):c.3242G>A (p.Arg1081Gln) rs140079523
NM_002693.2(POLG):c.3626_3628dup (p.Tyr1210Ter) rs1596348339
NM_002693.2(POLG):c.926G>A (p.Arg309His) rs780953863
NM_002693.3(POLG):c.*330G>A
NM_002693.3(POLG):c.868C>T (p.Arg290Cys)
NM_002700.3(POU4F3):c.118C>T (p.Gln40Ter) rs1554087566
NM_002709.3(PPP1CB):c.255C>A (p.Asn85Lys) rs1553310744
NM_002734.5(PRKAR1A):c.695G>A (p.Arg232Lys)
NM_002739.5(PRKCG):c.1764+1G>A rs1406338491
NM_002764.4(PRPS1):c.25G>C (p.Gly9Arg) rs1602893221
NM_002764.4(PRPS1):c.395C>T (p.Ser132Phe)
NM_002775.5(HTRA1):c.451C>T (p.Gln151Ter) rs754645487
NM_002863.5(PYGL):c.188_189insGA (p.His63fs)
NM_002863.5(PYGL):c.1969+1del
NM_002887.4(RARS1):c.1534C>T (p.Arg512Trp) rs757249400
NM_002972.4(SBF1):c.3492-1G>T rs1057519117
NM_002972.4(SBF1):c.4768A>G (p.Thr1590Ala) rs200488568
NM_003000.2(SDHB):c.293G>A (p.Cys98Tyr) rs1553177768
NM_003002.4(SDHD):c.12_13del (p.Trp5fs) rs1592777182
NM_003002.4(SDHD):c.479G>T (p.Ter160Leu) rs201372601
NM_003042.4(SLC6A1):c.130C>T (p.Arg44Trp) rs1553687863
NM_003042.4(SLC6A1):c.238+1G>T rs1574891285
NM_003042.4(SLC6A1):c.595C>T (p.Gln199Ter) rs1559626646
NM_003042.4(SLC6A1):c.650C>T (p.Thr217Met)
NM_003060.4(SLC22A5):c.1411C>A (p.Arg471Ser) rs749282641
NM_003060.4(SLC22A5):c.287G>C (p.Gly96Ala) rs377767450
NM_003060.4(SLC22A5):c.371A>G (p.Tyr124Cys) rs762126547
NM_003070.5(SMARCA2):c.3314G>T (p.Arg1105Leu) rs281875197
NM_003072.5(SMARCA4):c.1762-2A>G
NM_003072.5(SMARCA4):c.4704_4713del (p.Asp1568fs) rs1600644179
NM_003073.5(SMARCB1):c.1070C>T (p.Thr357Ile) rs1555881567
NM_003073.5(SMARCB1):c.1142C>G (p.Thr381Arg) rs1387467529
NM_003079.5(SMARCE1):c.314G>A (p.Arg105Gln)
NM_003104.6(SORD):c.458C>A (p.Ala153Asp)
NM_003108.4(SOX11):c.511A>T (p.Lys171Ter) rs1553327863
NM_003119.4(SPG7):c.1049_1077del (p.Pro350fs) rs775364547
NM_003119.4(SPG7):c.1727C>G (p.Ser576Trp) rs151249432
NM_003119.4(SPG7):c.1749G>C (p.Trp583Cys) rs267607085
NM_003119.4(SPG7):c.1894G>A (p.Gly632Arg)
NM_003119.4(SPG7):c.1998del (p.Met667fs)
NM_003124.5(SPR):c.517G>T (p.Gly173Ter) rs1573882444
NM_003124.5(SPR):c.783_786del (p.Ter262ProextTer?) rs1553498611
NM_003126.4(SPTA1):c.60del (p.Ala21fs)
NM_003150.4(STAT3):c.1110-1G>A rs1598406651
NM_003150.4(STAT3):c.1255G>A (p.Gly419Arg) rs1555565595
NM_003165.4(STXBP1):c.664-1G>A rs1554777464
NM_003172.4(SURF1):c.311_312insA (p.Leu105fs) rs764928653
NM_003172.4(SURF1):c.313_321del (p.Leu105_Ala107del) rs759270179
NM_003193.5(TBCE):c.1038del (p.Glu347fs)
NM_003193.5(TBCE):c.1183C>T (p.Gln395Ter) rs1553339816
NM_003235.5(TG):c.1612_1613insGTTAAGGTTAAG (p.Ala538delinsGlyTer) rs1587248925
NM_003239.4(TGFB3):c.755-1G>C rs1566679646
NM_003242.6(TGFBR2):c.1241C>T (p.Ala414Val)
NM_003242.6(TGFBR2):c.757G>A (p.Gly253Ser) rs1559466824
NM_003282.4(TNNI2):c.380_391del (p.Leu127_Lys130del) rs1057519093
NM_003292.3(TPR):c.*1181_*1182del
NM_003322.6(TULP1):c.1268T>C (p.Val423Ala) rs1554125521
NM_003322.6(TULP1):c.1496-6C>A rs281865171
NM_003331.5(TYK2):c.2909-1G>A rs1599328119
NM_003331.5(TYK2):c.647del (p.Pro216fs) rs1555719963
NM_003384.3(VRK1):c.266G>C (p.Arg89Pro) rs773138218
NM_003412.4(ZIC1):c.301C>A (p.Leu101Met) rs1576469513
NM_003480.4(MFAP5):c.88C>T (p.Arg30Ter) rs962247688
NM_003482.3(KMT2D):c.13032del (p.Lys4345fs) rs398123716
NM_003482.3(KMT2D):c.14382+1G>C rs1555186428
NM_003482.4(KMT2D):c.11787del (p.Gln3929fs)
NM_003482.4(KMT2D):c.12231dup (p.Val4078fs)
NM_003482.4(KMT2D):c.4344_4345del (p.Cys1448_Asp1449delinsTer) rs1064797168
NM_003482.4(KMT2D):c.5227C>T (p.Gln1743Ter)
NM_003494.3(DYSF):c.3113G>A rs150877497
NM_003560.4(PLA2G6):c.1186+1G>A rs761815070
NM_003560.4(PLA2G6):c.1547_1548dup (p.Gly517fs) rs1555988204
NM_003560.4(PLA2G6):c.1612C>A (p.Arg538Ser) rs370691849
NM_003560.4(PLA2G6):c.986G>A (p.Arg329His) rs587784363
NM_003619.4(PRSS12):c.1413_1416dup (p.His473fs)
NM_003620.3(PPM1D):c.1237_1238del (p.Pro413fs) rs1555648565
NM_003620.4(PPM1D):c.1451dup (p.Leu484fs)
NM_003630.3(PEX3):c.389G>A (p.Arg130Gln) rs758701470
NM_003638.3(ITGA8):c.1123dup (p.Gln375fs)
NM_003638.3(ITGA8):c.722C>A (p.Ser241Ter)
NM_003682.4(MADD):c.3760-2A>C rs1555081426
NM_003682.4(MADD):c.979C>T (p.Arg327Ter) rs147179561
NM_003719.5(PDE8B):c.2331dup (p.Lys778Ter)
NM_003722.5(TP63):c.853_854del (p.Ser285fs) rs1553857303
NM_003742.4(ABCB11):c.3722T>C (p.Leu1241Pro) rs1064797269
NM_003824.4(FADD):c.350G>A (p.Arg117His) rs1392069885
NM_003850.3(SUCLA2):c.766G>T (p.Glu256Ter)
NM_003865.3(HESX1):c.308T>A (p.Leu103Ter) rs777223697
NM_003907.3(EIF2B5):c.1208C>T (p.Ala403Val)
NM_003907.3(EIF2B5):c.545C>T (p.Thr182Met) rs113994053
NM_003919.3(SGCE):c.193G>T (p.Glu65Ter) rs1064797339
NM_003919.3(SGCE):c.233-2del rs1562864687
NM_003919.3(SGCE):c.549_552del (p.Phe183fs) rs1554352952
NM_003919.3(SGCE):c.667del (p.Tyr223fs) rs1057519246
NM_003919.3(SGCE):c.707T>G (p.Leu236Ter) rs1554345208
NM_003919.3(SGCE):c.715_719dup (p.Asn241fs) rs1554345179
NM_003919.3(SGCE):c.800_804del (p.Phe266_Tyr267insTer) rs1584546056
NM_003919.3(SGCE):c.810G>A (p.Trp270Ter) rs1562811414
NM_003919.3(SGCE):c.812G>A (p.Cys271Tyr) rs372686312
NM_003977.4(AIP):c.333del (p.Lys112fs)
NM_003977.4(AIP):c.347_373del (p.Glu116_Val124del) rs1591044758
NM_003998.4(NFKB1):c.1361dup (p.Asn454fs) rs1560706306
NM_003998.4(NFKB1):c.1400_1401dup (p.Gln468fs) rs1578809017
NM_003998.4(NFKB1):c.2455C>T (p.Gln819Ter) rs1578837249
NM_003998.4(NFKB1):c.589del (p.Ile197fs) rs1578787945
NM_004004.6(GJB2):c.119C>A (p.Ala40Glu) rs111033296
NM_004006.3(DMD):c.1774_1804del (p.Asp592fs) rs1601808175
NM_004006.3(DMD):c.4003G>C (p.Val1335Leu)
NM_004006.3(DMD):c.649G>A (p.Asp217Asn)
NM_004010.3(DMD):c.-291dup rs1057519180
NM_004064.4(CDKN1B):c.-29_-26delAGAG rs774454456
NM_004064.4(CDKN1B):c.215dup (p.Lys73fs) rs1555085549
NM_004130.4(GYG1):c.329del (p.Asn110fs)
NM_004130.4(GYG1):c.832dup (p.Ser278fs)
NM_004168.4(SDHA):c.1526C>G (p.Ser509Trp) rs397514541
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp) rs200397144
NM_004181.5(UCHL1):c.385_388dup (p.Ala130fs) rs1554004920
NM_004183.4(BEST1):c.247+2del rs1565387045
NM_004183.4(BEST1):c.302C>G (p.Pro101Arg)
NM_004183.4(BEST1):c.37C>G (p.Arg13Gly) rs886041141
NM_004183.4(BEST1):c.38G>C (p.Arg13Pro) rs281865209
NM_004183.4(BEST1):c.397A>C (p.Asn133His) rs755851136
NM_004183.4(BEST1):c.50T>A (p.Phe17Tyr)
NM_004183.4(BEST1):c.888C>A (p.Asn296Lys) rs1554963058
NM_004247.4(EFTUD2):c.1641dup (p.Asn548fs) rs1597795664
NM_004247.4(EFTUD2):c.742C>T (p.Gln248Ter)
NM_004260.3(RECQL4):c.359_374del (p.Gly120Alafs) rs1554903709
NM_004260.4(RECQL4):c.419del (p.Pro140fs) rs1406864413
NM_004273.5(CHST3):c.168_186dup (p.Asn63fs)
NM_004281.4(BAG3):c.613del (p.Tyr205fs) rs1589630130
NM_004320.5(ATP2A1):c.2862+1G>A rs755227074
NM_004321.7(KIF1A):c.1180+517G>A rs1553635398
NM_004321.7(KIF1A):c.1502del (p.Pro501fs) rs1057519164
NM_004321.7(KIF1A):c.206C>T (p.Ser69Leu) rs786200949
NM_004321.7(KIF1A):c.2323C>T (p.Arg775Ter) rs1327297188
NM_004321.7(KIF1A):c.31C>T (p.Arg11Trp) rs548204329
NM_004321.7(KIF1A):c.4036C>T (p.Arg1346Ter) rs1057519240
NM_004321.7(KIF1A):c.647G>A (p.Arg216His) rs672601368
NM_004369.3(COL6A3):c.4624C>T (p.Gln1542Ter) rs1553557696
NM_004369.4(COL6A3):c.4285+1G>T rs1574701592
NM_004369.4(COL6A3):c.5662_5670del (p.Ser1888_Val1890del)
NM_004369.4(COL6A3):c.6418G>A (p.Gly2140Arg)
NM_004369.4(COL6A3):c.6787C>T (p.Arg2263Ter)
NM_004370.6(COL12A1):c.4957+1G>A rs1366112521
NM_004370.6(COL12A1):c.7519+1G>A rs1064797326
NM_004370.6(COL12A1):c.8258G>A (p.Gly2753Asp)
NM_004380.3(CREBBP):c.5218C>A (p.His1740Asn) rs1596788162
NM_004380.3(CREBBP):c.5356C>T (p.Arg1786Cys) rs1555471394
NM_004403.3(GSDME):c.1183+1G>A rs1554322596
NM_004408.4(DNM1):c.535T>C (p.Ser179Pro) rs1564328788
NM_004429.5(EFNB1):c.409A>G (p.Thr137Ala)
NM_004453.4(ETFDH):c.1366C>T (p.Pro456Ser) rs751821289
NM_004456.5(EZH2):c.1512G>A (p.Trp504Ter) rs1563205364
NM_004463.3(FGD1):c.139_140del (p.Gly47fs)
NM_004463.3(FGD1):c.2206T>C (p.Cys736Arg)
NM_004482.4(GALNT3):c.485G>A (p.Arg162Gln)
NM_004519.4(KCNQ3):c.194G>C (p.Gly65Ala)
NM_004519.4(KCNQ3):c.938C>T (p.Thr313Ile)
NM_004523.4(KIF11):c.1145T>C (p.Ile382Thr) rs1589597598
NM_004523.4(KIF11):c.1154dup (p.Leu385fs) rs1554860819
NM_004523.4(KIF11):c.2267+4del rs1057519141
NM_004562.3(PRKN):c.1358G>A (p.Trp453Ter) rs137853056
NM_004562.3(PRKN):c.141_153del (p.Lys48fs)
NM_004562.3(PRKN):c.1A>G (p.Met1Val) rs772786691
NM_004562.3(PRKN):c.394CCA[3] (p.Pro133dup) rs747624684
NM_004563.4(PCK2):c.68C>G (p.Ser23Ter) rs61752842
NM_004595.5(SMS):c.350G>T (p.Gly117Val)
NM_004606.5(TAF1):c.3676C>T (p.Arg1226Trp) rs864321629
NM_004618.5(TOP3A):c.1155del (p.Asp386fs)
NM_004655.4(AXIN2):c.1032_1038del (p.Asn344fs)
NM_004656.4(BAP1):c.37+1G>T rs1559593339
NM_004672.5(MAP3K6):c.2544del (p.Phe849fs) rs34008139
NM_004672.5(MAP3K6):c.3781del (p.Arg1261fs) rs768616209
NM_004722.4(AP4M1):c.1129del (p.Leu377fs)
NM_004722.4(AP4M1):c.259del (p.Ala87fs) rs1584508277
NM_004736.4(XPR1):c.2031-2A>G rs1571259311
NM_004782.4(SNAP29):c.365_368del (p.Tyr122fs)
NM_004820.5(CYP7B1):c.1328G>C (p.Gly443Ala) rs1190562443
NM_004826.4(ECEL1):c.332del (p.Phe111fs) rs764471983
NM_004830.4(MED23):c.1387A>T (p.Arg463Ter)
NM_004928.3(CFAP410):c.96+4del rs1268187387
NM_004945.3(DNM2):c.1597G>A (p.Gly533Ser) rs121909093
NM_004958.4(MTOR):c.5660G>T (p.Gly1887Val)
NM_004958.4(MTOR):c.5663T>G (p.Phe1888Cys) rs869312666
NM_004963.4(GUCY2C):c.245dup (p.Met83fs)
NM_004974.4(KCNA2):c.1208C>T (p.Ala403Val)
NM_004974.4(KCNA2):c.1219C>G (p.Pro407Ala) rs1557731896
NM_004974.4(KCNA2):c.547G>A (p.Glu183Lys) rs1553181398
NM_004975.4(KCNB1):c.605C>G (p.Ser202Cys)
NM_004975.4(KCNB1):c.841G>A (p.Glu281Lys) rs1601071708
NM_004975.4(KCNB1):c.940T>G (p.Ser314Ala)
NM_004975.4(KCNB1):c.995G>T (p.Gly332Val) rs1555889110
NM_004977.3(KCNC3):c.1737ACCCCCGCC[1] (p.Pro583_Pro585del) rs747618525
NM_004977.3(KCNC3):c.2113C>T (p.Arg705Ter) rs1408825410
NM_005006.7(NDUFS1):c.1589_1596del (p.Tyr530fs) rs1553503177
NM_005006.7(NDUFS1):c.1596_1597insCG (p.Gly533fs) rs1553503175
NM_005045.4(RELN):c.4962G>A (p.Trp1654Ter)
NM_005051.3(QARS1):c.1570C>T (p.Arg524Trp) rs774980346
NM_005051.3(QARS1):c.2068C>T (p.Arg690Cys) rs370934093
NM_005052.3(RAC3):c.187G>A (p.Asp63Asn)
NM_005076.5(CNTN2):c.2432-2A>G rs1196223064
NM_005097.4(LGI1):c.688del (p.Gln230fs) rs1064797149
NM_005105.5(RBM8A):c.-21G>A rs139428292
NM_005208.5(CRYBA1):c.269GAG[1] (p.Gly91del) rs1064797219
NM_005211.3(CSF1R):c.2345G>T (p.Arg782Leu) rs281860281
NM_005211.3(CSF1R):c.2629C>T (p.Gln877Ter) rs690016556
NM_005214.5(CTLA4):c.118G>A (p.Val40Met) rs1553657378
NM_005214.5(CTLA4):c.487del (p.Leu163fs)
NM_005219.5(DIAPH1):c.2901dup (p.Arg968fs)
NM_005219.5(DIAPH1):c.3268dup (p.Met1090fs) rs1235751512
NM_005245.4(FAT1):c.5511T>G (p.Tyr1837Ter)
NM_005249.4(FOXG1):c.885dup (p.Gly296Argfs) rs1555321369
NM_005249.5(FOXG1):c.584G>C (p.Arg195Pro)
NM_005249.5(FOXG1):c.632T>A (p.Ile211Asn) rs1594383648
NM_005262.3(GFER):c.502C>T (p.Gln168Ter) rs201762532
NM_005359.6(SMAD4):c.1514_1515del (p.Phe505fs) rs864622252
NM_005373.2(MPL):c.1781T>G (p.Leu594Trp) rs1448812001
NM_005402.4(RALA):c.390T>A (p.Asp130Glu)
NM_005422.2(TECTA):c.2359del (p.Glu787fs) rs1057519150
NM_005422.4(TECTA):c.6162+1G>A
NM_005430.4(WNT1):c.664G>C (p.Gly222Arg) rs1592257820
NM_005431.2(XRCC2):c.96del (p.Phe32fs) rs730882048
NM_005465.7(AKT3):c.1330A>G (p.Ile444Val) rs1574509510
NM_005477.3(HCN4):c.1186C>T (p.Arg396Ter)
NM_005529.7(HSPG2):c.1819-1G>A rs868479224
NM_005559.4(LAMA1):c.2932A>G (p.Lys978Glu) rs764398676
NM_005559.4(LAMA1):c.2935del (p.Arg979fs) rs758601967
NM_005559.4(LAMA1):c.7180C>T (p.Arg2394Ter) rs542213899
NM_005559.4(LAMA1):c.7354A>T (p.Lys2452Ter) rs1178467103
NM_005585.5(SMAD6):c.124C>T (p.Arg42Ter) rs1447391811
NM_005585.5(SMAD6):c.695G>A (p.Trp232Ter) rs1595757398
NM_005590.4(MRE11):c.1222dup (p.Thr408fs) rs774440500
NM_005590.4(MRE11):c.1516G>T (p.Glu506Ter) rs587781384
NM_005591.3(MRE11):c.77T>C (p.Met26Thr) rs372068015
NM_005591.4(MRE11):c.350A>G (p.Asn117Ser) rs137852760
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) rs116135678
NM_005609.4(PYGM):c.1456G>A (p.Gly486Ser) rs926661627
NM_005609.4(PYGM):c.1970-2A>T rs1064797157
NM_005618.4(DLL1):c.2013_2014del (p.Glu673fs) rs1583151308
NM_005619.5(RTN2):c.265C>T (p.Gln89Ter) rs1568625691
NM_005619.5(RTN2):c.37G>T (p.Glu13Ter) rs1599914870
NM_005629.4(SLC6A8):c.1289_1299del (p.Leu430fs)
NM_005629.4(SLC6A8):c.918_919del (p.Trp306fs)
NM_005633.4(SOS1):c.323A>T (p.Glu108Val)
NM_005639.3(SYT1):c.845G>A (p.Arg282His)
NM_005654.6(NR2F1):c.239G>T (p.Ser80Ile) rs1561523678
NM_005654.6(NR2F1):c.278C>A (p.Ser93Ter) rs1064797311
NM_005654.6(NR2F1):c.354_357del (p.Leu118fs) rs1580358650
NM_005670.4(EPM2A):c.259A>G (p.Lys87Glu) rs1583155981
NM_005670.4(EPM2A):c.290T>G (p.Leu97Arg)
NM_005676.5(RBM10):c.2296C>T (p.Arg766Cys)
NM_005726.6(TSFM):c.944G>A (p.Cys315Tyr) rs587777688
NM_005732.4(RAD50):c.3229C>T (p.Arg1077Ter) rs368980595
NM_005732.4(RAD50):c.326_329del (p.Thr109fs) rs587780155
NM_005732.4(RAD50):c.3715C>T (p.Arg1239Ter) rs876658770
NM_005850.5(SF3B4):c.749del (p.Pro250fs)
NM_005859.5(PURA):c.484A>G (p.Asn162Asp) rs1581036424
NM_005861.4(STUB1):c.518del (p.Arg173fs) rs1596549676
NM_005861.4(STUB1):c.673C>T (p.Arg225Ter) rs1395191127
NM_005861.4(STUB1):c.689_692del (p.Tyr230fs)
NM_005861.4(STUB1):c.824del (p.Leu275fs)
NM_005862.3(STAG1):c.997A>G (p.Lys333Glu)
NM_005902.4(SMAD3):c.221G>A (p.Arg74Gln) rs1566991387
NM_005902.4(SMAD3):c.871+1G>T
NM_005908.4(MANBA):c.1236G>A (p.Trp412Ter) rs1553945794
NM_005908.4(MANBA):c.1511_1512insAATA (p.Ser505fs)
NM_005909.5(MAP1B):c.2456del (p.Pro819fs)
NM_005910.5(MAPT):c.1087G>A (p.Val363Ile) rs63750869
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu) rs13447331
NM_005933.4(KMT2A):c.2322_2323del (p.Ser775fs) rs1555036478
NM_005933.4(KMT2A):c.2517dup (p.Thr840fs) rs1057519149
NM_005933.4(KMT2A):c.3193G>T (p.Gly1065Ter) rs1064797162
NM_005984.5(SLC25A1):c.517_526del (p.Arg173fs) rs483352911
NM_005993.5(TBCD):c.2048_2052dup (p.Glu685Ter) rs1568044300
NM_005993.5(TBCD):c.230A>G (p.His77Arg) rs1409600874
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg) rs200672755
NM_006005.3(WFS1):c.2208_2211del (p.Glu737fs) rs1064797306
NM_006005.3(WFS1):c.529C>T (p.Arg177Cys) rs760631912
NM_006005.3(WFS1):c.712+1G>A rs1281745640
NM_006015.6(ARID1A):c.5125C>T (p.Leu1709Phe)
NM_006015.6(ARID1A):c.6750_6754del (p.Glu2250fs) rs1570623368
NM_006017.3(PROM1):c.1578+1G>A rs1553901823
NM_006019.4(TCIRG1):c.806_807+1del rs1554995891
NM_006030.4(CACNA2D2):c.2234+1G>A
NM_006031.6(PCNT):c.4117C>T (p.Gln1373Ter) rs1555974965
NM_006031.6(PCNT):c.9706C>T (p.Arg3236Ter) rs757793925
NM_006059.4(LAMC3):c.2833del (p.Gln945fs) rs1554789398
NM_006059.4(LAMC3):c.4354C>T (p.Gln1452Ter) rs1588171883
NM_006060.6(IKZF1):c.1480_1481del (p.Met494fs) rs1554391793
NM_006070.6(TFG):c.337C>T (p.Arg113Ter) rs764959531
NM_006073.4(TRDN):c.1292_1293del (p.Glu431fs) rs1582923790
NM_006073.4(TRDN):c.1870+1G>A rs377115913
NM_006087.4(TUBB4A):c.1049A>C (p.Lys350Thr)
NM_006087.4(TUBB4A):c.286G>A (p.Gly96Arg) rs1131691696
NM_006158.4(NEFL):c.1195C>T (p.Arg399Ter) rs1429859627
NM_006160.4(NEUROD2):c.389A>C (p.Glu130Ala)
NM_006186.4(NR4A2):c.1494_1497dup (p.Ile500fs) rs1573811478
NM_006204.4(PDE6C):c.2367+1_2367+5del rs796051871
NM_006214.4(PHYH):c.512G>A (p.Arg171His) rs752028596
NM_006218.4(PIK3CA):c.1090G>A (p.Gly364Arg) rs1576935161
NM_006231.3(POLE):c.6623del (p.Gln2208fs) rs1555301070
NM_006231.4(POLE):c.2174-1_2174del
NM_006231.4(POLE):c.4480_4481del (p.Gln1494fs) rs1593733806
NM_006231.4(POLE):c.5379-5_5384del rs1593722216
NM_006265.3(RAD21):c.428T>C (p.Ile143Thr)
NM_006269.2(RP1):c.2161del (p.Gly723fs) rs755429480
NM_006269.2(RP1):c.2700dup (p.Pro901fs) rs797044735
NM_006269.2(RP1):c.3690del (p.Gly1231fs) rs1554519822
NM_006306.4(SMC1A):c.52_53del (p.Arg18fs) rs1602418853
NM_006343.3(MERTK):c.1296+1G>A rs774577413
NM_006352.4(ZBTB18):c.1394C>T (p.Pro465Leu) rs1553270631
NM_006359.3(SLC9A6):c.1631+1G>A rs796053283
NM_006359.3(SLC9A6):c.803+2dup rs1603201598
NM_006361.6(HOXB13):c.251G>A rs138213197
NM_006363.6(SEC23B):c.1887del (p.His631fs) rs1216879587
NM_006445.3(PRPF8):c.6972dup (p.Val2325Glyfs) rs1555550025
NM_006445.4(PRPF8):c.5804G>A (p.Arg1935His) rs1555550617
NM_006445.4(PRPF8):c.6970dup (p.Glu2324fs) rs1064797215
NM_006509.4(RELB):c.662+1G>T
NM_006516.3(SLC2A1):c.377G>A (p.Arg126His) rs80359816
NM_006516.3(SLC2A1):c.482A>G (p.Gln161Arg) rs1553156154
NM_006516.3(SLC2A1):c.695G>A (p.Arg232His) rs139412383
NM_006565.4(CTCF):c.1016G>A (p.Arg339Gln) rs1567610917
NM_006593.4(TBR1):c.1054C>T (p.Gln352Ter) rs1553510472
NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs) rs869312704
NM_006593.4(TBR1):c.571C>T (p.Gln191Ter)
NM_006623.4(PHGDH):c.403C>T (p.Arg135Trp) rs267606949
NM_006623.4(PHGDH):c.901del (p.Val301fs) rs1571013274
NM_006662.3(SRCAP):c.8638_8683del (p.Ala2880fs) rs1596669503
NM_006736.6(DNAJB2):c.230-2A>G rs369661561
NM_006744.4(RBP4):c.353G>A (p.Gly118Glu) rs1554887443
NM_006765.4(TUSC3):c.992C>A (p.Ser331Ter) rs200667343
NM_006766.5(KAT6A):c.2007del (p.Leu669fs) rs1564013046
NM_006766.5(KAT6A):c.296G>A (p.Trp99Ter) rs1554702654
NM_006766.5(KAT6A):c.3039+1G>T rs1554681382
NM_006767.4(LZTR1):c.1447C>T (p.Gln483Ter) rs752547717
NM_006767.4(LZTR1):c.2407-2A>C rs1158550690
NM_006767.4(LZTR1):c.2407-2A>G rs1158550690
NM_006767.4(LZTR1):c.2421del (p.Thr808fs) rs1185411712
NM_006767.4(LZTR1):c.370GTC[1] (p.Val125del) rs755783378
NM_006767.4(LZTR1):c.842del (p.Pro281fs) rs1419091884
NM_006772.3(SYNGAP1):c.2115G>C (p.Lys705Asn)
NM_006772.3(SYNGAP1):c.2362_2366dup (p.Thr790fs)
NM_006772.3(SYNGAP1):c.2525C>A (p.Ser842Tyr) rs1561788965
NM_006772.3(SYNGAP1):c.2979dup (p.Lys994fs) rs1554122276
NM_006772.3(SYNGAP1):c.663+1G>A rs1064797322
NM_006772.3(SYNGAP1):c.68-1G>A rs1562869207
NM_006796.3(AFG3L2):c.1026+1G>A rs1598833532
NM_006796.3(AFG3L2):c.1363C>T (p.Arg455Ter) rs1378484093
NM_006796.3(AFG3L2):c.2105G>A rs151344523
NM_006796.3(AFG3L2):c.2114T>C (p.Ile705Thr) rs1598820805
NM_006852.6(TLK2):c.1778G>A (p.Gly593Asp)
NM_006852.6(TLK2):c.2153A>G (p.Tyr718Cys) rs1598940661
NM_006907.4(PYCR1):c.424C>T (p.Gln142Ter)
NM_006914.4(RORB):c.751C>T (p.Gln251Ter)
NM_006915.3(RP2):c.365G>A (p.Cys122Tyr) rs1556318642
NM_006915.3(RP2):c.392del (p.Cys131fs) rs1064797368
NM_006920.6(SCN1A):c.2948C>T (p.Ser983Leu) rs1574172286
NM_006920.6(SCN1A):c.3599G>A (p.Cys1200Tyr) rs1574060743
NM_006920.6(SCN1A):c.491T>A (p.Ile164Lys) rs1574282312
NM_006920.6(SCN1A):c.539T>G (p.Leu180Ter) rs1574281711
NM_006920.6(SCN1A):c.779dup (p.Phe261fs) rs1574265485
NM_006922.4(SCN3A):c.4403T>G (p.Ile1468Arg) rs755159935
NM_006940.6(SOX5):c.1672C>T (p.Arg558Cys) rs1591908680
NM_006946.3(SPTBN2):c.1310G>A (p.Arg437Gln) rs1554986337
NM_006946.4(SPTBN2):c.5991_5992del (p.Glu1997fs) rs1590911156
NM_006950.3(SYN1):c.1962del (p.Pro655fs) rs1556857412
NM_006950.3(SYN1):c.2026del (p.Ala676fs) rs1064797369
NM_006979.3(SLC39A7):c.53G>A (p.Trp18Ter) rs956657049
NM_007055.4(POLR3A):c.126C>G (p.Tyr42Ter)
NM_007055.4(POLR3A):c.1681C>G (p.Arg561Gly)
NM_007055.4(POLR3A):c.2025del (p.Ala676fs)
NM_007055.4(POLR3A):c.2422C>T (p.Arg808Ter) rs750874617
NM_007055.4(POLR3A):c.760C>T (p.Arg254Ter) rs141659018
NM_007078.3(LDB3):c.566C>T (p.Ser189Leu) rs45487699
NM_007118.4(TRIO):c.1717C>T (p.Gln573Ter) rs1554054155
NM_007118.4(TRIO):c.4038A>C (p.Glu1346Asp)
NM_007118.4(TRIO):c.4282C>T (p.Arg1428Ter)
NM_007118.4(TRIO):c.7359del (p.Ala2454fs)
NM_007175.8(ERLIN2):c.237-1G>A rs1057519172
NM_007194.4(CHEK2):c.1175C>T (p.Ala392Val) rs373073383
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His) rs121908706
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740
NM_007194.4(CHEK2):c.319+1G>T rs765080766
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982
NM_007194.4(CHEK2):c.549G>C (p.Leu183Phe) rs745646057
NM_007194.4(CHEK2):c.908+1G>T rs587781699
NM_007254.4(PNKP):c.838del (p.Ser280fs)
NM_007262.5(PARK7):c.189dup (p.Glu64fs) rs759703272
NM_007294.4(BRCA1):c.838_847del (p.Ala280fs)
NM_007315.4(STAT1):c.1852G>T (p.Glu618Ter) rs1574640523
NM_007374.3(SIX6):c.532_536del (p.Asn178fs) rs786205142
NM_012062.5(DNM1L):c.1091C>A (p.Ala364Asp) rs1592661947
NM_012233.3(RAB3GAP1):c.899+1G>A rs587777152
NM_012280.4(FTSJ1):c.877dup (p.Gln293fs) rs1569474795
NM_012309.5(SHANK2):c.4151del (p.Ala1384fs)
NM_012330.4(KAT6B):c.3213del (p.Glu1072fs) rs1589824871
NM_012330.4(KAT6B):c.3214G>C (p.Glu1072Gln) rs1589824884
NM_012415.3(RAD54B):c.1413del (p.Phe471fs)
NM_012434.5(SLC17A5):c.1223del (p.Ser408fs) rs868677428
NM_012452.2(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883
NM_013254.4(TBK1):c.379C>T (p.Arg127Ter) rs1064797170
NM_013275.6(ANKRD11):c.6982dup (p.Arg2328fs) rs1555525088
NM_013275.6(ANKRD11):c.7144dup (p.Gln2382fs) rs1597432871
NM_013275.6(ANKRD11):c.99dup (p.Val34fs) rs1567614448
NM_013296.5(GPSM2):c.1194_1198dup (p.Arg400fs) rs1570936325
NM_013435.3(RAX):c.106G>T (p.Glu36Ter)
NM_013995.2(LAMP2):c.1A>T (p.Met1Leu) rs1556124149
NM_014009.4(FOXP3):c.1156C>T (p.Arg386Cys)
NM_014053.4(FLVCR1):c.1318_1321del (p.Thr440fs) rs1572027164
NM_014053.4(FLVCR1):c.971C>A (p.Ser324Ter) rs1558112968
NM_014112.5(TRPS1):c.2755C>G (p.Leu919Val) rs1586254022
NM_014141.6(CNTNAP2):c.252G>A (p.Trp84Ter) rs267601384
NM_014141.6(CNTNAP2):c.3331C>T (p.Gln1111Ter) rs1159246607
NM_014159.7(SETD2):c.1289_1290del (p.Asp429_Ser430insTer) rs1575817869
NM_014231.5(VAMP1):c.230C>A (p.Ser77Ter) rs1555130465
NM_014236.4(GNPAT):c.838dup (p.Ile280fs) rs1558334598
NM_014239.4(EIF2B2):c.947T>A (p.Val316Asp) rs104894426
NM_014264.5(PLK4):c.1232C>G (p.Ser411Ter) rs1379328798
NM_014297.5(ETHE1):c.742G>A (p.Gly248Arg) rs1472698495
NM_014334.4(FRRS1L):c.-78G>T rs1310777849
NM_014334.4(FRRS1L):c.709+2T>G
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter) rs281865120
NM_014363.6(SACS):c.12913G>T (p.Glu4305Ter) rs376376974
NM_014704.4(CEP104):c.1891C>T (p.Arg631Ter)
NM_014714.4(IFT140):c.472C>T (p.Arg158Trp) rs755315693
NM_014727.2(KMT2B):c.4766_4768del (p.Asp1589del) rs1568377563
NM_014727.3(KMT2B):c.4789C>T (p.Arg1597Trp)
NM_014727.3(KMT2B):c.4840T>C (p.Trp1614Arg)
NM_014727.3(KMT2B):c.649dup (p.Arg217fs) rs764234724
NM_014795.4(ZEB2):c.-69-1G>C
NM_014797.3(ZBTB24):c.817C>T (p.Gln273Ter)
NM_014804.3(KIAA0753):c.661C>T (p.Arg221Ter) rs774799042
NM_014844.5(TECPR2):c.565_569del (p.Thr189fs) rs1595112176
NM_014845.5(FIG4):c.2467C>T (p.Gln823Ter) rs745790694
NM_014845.6(FIG4):c.1447C>T (p.Arg483Ter) rs1228223508
NM_014845.6(FIG4):c.317_321del (p.Tyr106fs) rs1562648414
NM_014855.3(AP5Z1):c.928C>T (p.Arg310Ter) rs748724870
NM_014865.4(NCAPD2):c.1954+1G>A rs149296057
NM_014865.4(NCAPD2):c.445-1G>T rs1555138550
NM_014874.3(MFN2):c.221A>G (p.Gln74Arg) rs1569815882
NM_014874.3(MFN2):c.311G>A (p.Arg104Gln) rs863224068
NM_014874.3(MFN2):c.691T>A (p.Ser231Thr) rs1557524814
NM_014920.5(CILK1):c.814C>T (p.Arg272Ter) rs772883200
NM_014927.5(CNKSR2):c.1517dup (p.Thr507fs) rs1601952572
NM_014946.3(SPAST):c.1507C>T (p.Arg503Trp) rs864622162
NM_014946.3(SPAST):c.1536+1G>C rs1553319095
NM_014946.3(SPAST):c.1685G>A (p.Arg562Gln) rs863224923
NM_014946.3(SPAST):c.1775_1778del (p.Ile592fs) rs1553321232
NM_014946.3(SPAST):c.1785C>A (p.Ser595Arg) rs145206063
NM_014946.4(SPAST):c.1066G>A rs1057519181
NM_014946.4(SPAST):c.1094C>G (p.Pro365Arg)
NM_014946.4(SPAST):c.1210_1212del (p.Phe404del)
NM_014946.4(SPAST):c.1242del (p.Lys414fs) rs1573142681
NM_014946.4(SPAST):c.1670C>T (p.Ala557Val) rs1057518873
NM_014946.4(SPAST):c.866_870del (p.His289fs)
NM_014975.3(MAST1):c.1565G>A (p.Gly522Glu) rs1323140691
NM_014989.5(RIMS1):c.3194+1G>A rs1057519205
NM_015021.3(ZNF292):c.2124_2127del (p.Asn708fs)
NM_015046.7(SETX):c.6406C>T (p.Arg2136Cys) rs1554807765
NM_015046.7(SETX):c.7042dup (p.Tyr2348fs) rs1057519213
NM_015072.5(TTLL5):c.211C>T (p.Arg71Ter) rs1439202144
NM_015087.5(SPART):c.1794dup (p.Val599fs) rs779688963
NM_015087.5(SPART):c.712G>T (p.Glu238Ter) rs1555263116
NM_015100.4(POGZ):c.1941T>G (p.Tyr647Ter) rs1571342521
NM_015120.4(ALMS1):c.10149dup (p.Ser3384fs) rs1553416872
NM_015120.4(ALMS1):c.1628T>A (p.Leu543Ter) rs1347176614
NM_015120.4(ALMS1):c.1735del (p.Arg579fs) rs777476179
NM_015120.4(ALMS1):c.8417dup (p.Gln2808fs) rs1057519133
NM_015175.3(NBEAL2):c.250del (p.Leu84fs)
NM_015180.5(SYNE2):c.4397G>A (p.Arg1466Gln) rs1064797188
NM_015214.3(DDHD2):c.1720+1G>A rs1554515767
NM_015214.3(DDHD2):c.517C>T (p.Gln173Ter) rs1424300803
NM_015215.4(CAMTA1):c.4183-1G>A rs1577362316
NM_015215.4(CAMTA1):c.4870C>T (p.Gln1624Ter) rs1485778259
NM_015243.2(VPS13B):c.1002T>G (p.Tyr334Ter) rs1057519182
NM_015271.5(TRIM2):c.2_5dup (p.Arg3fs) rs1159989977
NM_015272.5(RPGRIP1L):c.403del (p.Ser135fs) rs1598411105
NM_015275.3(WASHC4):c.1214dup (p.Tyr405Ter) rs1064797173
NM_015275.3(WASHC4):c.3041A>G (p.Tyr1014Cys)
NM_015311.3(OBSL1):c.3402del (p.Thr1135fs) rs1449351602
NM_015331.3(NCSTN):c.214del (p.Val72fs) rs1571202126
NM_015335.5(MED13L):c.3409A>C (p.Asn1137His)
NM_015340.4(LARS2):c.1247del (p.Gly416fs) rs747559986
NM_015346.4(ZFYVE26):c.4569+2T>C rs779242644
NM_015354.3(NUP188):c.337C>T (p.Gln113Ter) rs1588270041
NM_015378.4(VPS13D):c.3509T>G (p.Ile1170Ser) rs1569777589
NM_015378.4(VPS13D):c.907C>T (p.Arg303Ter) rs1569704391
NM_015443.4(KANSL1):c.1450del (p.Glu484fs) rs34878385
NM_015450.3(POT1):c.1065dup (p.Ala356fs)
NM_015450.3(POT1):c.125-2A>G rs1562997292
NM_015474.4(SAMHD1):c.434G>C (p.Arg145Pro)
NM_015548.5(DST):c.22del (p.Tyr8fs) rs775912185
NM_015560.2(OPA1):c.1065+5G>A rs1057519244
NM_015560.2(OPA1):c.1654T>C (p.Phe552Leu) rs1560380226
NM_015560.2(OPA1):c.1712G>A (p.Arg571His) rs140606054
NM_015560.2(OPA1):c.2354A>G (p.Gln785Arg) rs1064797302
NM_015560.2(OPA1):c.2386G>T (p.Glu796Ter) rs1553786499
NM_015560.2(OPA1):c.700G>T (p.Glu234Ter) rs1319065221
NM_015570.4(AUTS2):c.1587C>G (p.His529Gln) rs1563183444
NM_015627.2(LDLRAP1):c.71del (p.Gly24fs) rs1201229554
NM_015627.3(LDLRAP1):c.537del (p.Glu180fs) rs1572052376
NM_015629.4(PRPF31):c.279dup (p.Val94fs) rs1600335148
NM_015629.4(PRPF31):c.582_583del (p.Leu195fs) rs1555792879
NM_015629.4(PRPF31):c.743dup (p.Asn248fs) rs1064797250
NM_015629.4(PRPF31):c.904del (p.Ala302Glnfs) rs1555793828
NM_015631.6(TCTN3):c.1582_1590+7del rs781327291
NM_015909.4(NBAS):c.1549C>T (p.Arg517Cys) rs370526257
NM_015915.5(ATL1):c.1055C>A (p.Ala352Glu) rs1595621310
NM_015932.6(POMP):c.326dup (p.Asp109fs) rs1555257069
NM_015981.4(CAMK2A):c.902G>A (p.Gly301Glu)
NM_016030.6(TRAPPC12):c.1965+4A>G rs1572217664
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe) rs374550999
NM_016219.5(MAN1B1):c.1189G>A (p.Glu397Lys) rs387906885
NM_016219.5(MAN1B1):c.2065G>A (p.Glu689Lys) rs747045738
NM_016222.4(DDX41):c.3G>A (p.Met1Ile) rs141601766
NM_016239.4(MYO15A):c.4949_4953dup (p.Leu1652fs) rs1064797218
NM_016239.4(MYO15A):c.8309_8311del (p.Glu2770del) rs1555546699
NM_016247.4(IMPG2):c.3262C>T (p.Arg1088Ter) rs199867882
NM_016335.5(PRODH):c.1322T>C (p.Leu441Pro) rs2904551
NM_016373.4(WWOX):c.107+2_107+5del rs1555532979
NM_016495.6(TBC1D7):c.788del (p.Leu263fs) rs1584522453
NM_016628.5(WAC):c.1437+1G>A rs1554791124
NM_016729.3(FOLR1):c.494-2A>G
NM_017519.2(ARID1B):c.5560dup (p.Glu1854fs) rs1554237473
NM_017519.2(ARID1B):c.5996G>A (p.Trp1999Ter) rs1554237845
NM_017534.6(MYH2):c.5472+1G>A rs758888662
NM_017534.6(MYH2):c.713C>T (p.Thr238Ile) rs965291972
NM_017635.5(KMT5B):c.821-2A>G rs1590955042
NM_017636.4(TRPM4):c.448G>T (p.Gly150Ter) rs1425995839
NM_017654.4(SAMD9):c.4198C>T (p.Pro1400Ser) rs1584251663
NM_017722.4(TRMT1):c.1107-2A>G rs1555716802
NM_017739.3(POMGNT1):c.1212-3_1212-2del rs1064797111
NM_017739.4(POMGNT1):c.389del (p.Gly130fs)
NM_017763.6(RNF43):c.988C>T (p.Arg330Ter)
NM_017780.4(CHD7):c.3226A>G (p.Lys1076Glu)
NM_017780.4(CHD7):c.5436C>A (p.Asp1812Glu) rs1586440484
NM_017780.4(CHD7):c.7814_7815del (p.Met2605fs)
NM_017837.3(PIGV):c.614A>G (p.Asn205Ser) rs766452597
NM_017841.4(SDHAF2):c.37-1G>C rs761956866
NM_017849.3(TMEM127):c.49_52del (p.Ser17fs) rs1558756681
NM_017882.3(CLN6):c.278C>T (p.Thr93Met) rs150001589
NM_017882.3(CLN6):c.898T>C (p.Trp300Arg) rs750937323
NM_017934.7(PHIP):c.4590del (p.Phe1530fs)
NM_018105.2(THAP1):c.270_273delAGAA (p.Glu91Ilefs) rs749414480
NM_018105.3(THAP1):c.574G>A (p.Asp192Asn) rs377725442
NM_018136.5(ASPM):c.6623_6626del (p.Tyr2208fs) rs1571599902
NM_018153.3(ANTXR1):c.854T>A (p.Ile285Asn) rs371239458
NM_018249.6(CDK5RAP2):c.5157G>A (p.Trp1719Ter)
NM_018255.4(ELP2):c.1714del (p.Cys572fs) rs1283454201
NM_018294.6(CWF19L1):c.37G>C (p.Asp13His)
NM_018294.6(CWF19L1):c.942del (p.Pro315fs) rs749679347
NM_018319.4(TDP1):c.341_342del (p.Lys114fs) rs769278668
NM_018319.4(TDP1):c.525_529del (p.Pro176fs)
NM_018328.4(MBD5):c.1326dup (p.Val443fs) rs1553518563
NM_018328.4(MBD5):c.4276A>T (p.Lys1426Ter) rs1553521650
NM_018389.5(SLC35C1):c.503_505del (p.Phe168del) rs587777655
NM_018474.6(KIZ):c.251_258del (p.Phe84fs) rs1254494198
NM_018489.3(ASH1L):c.2808del (p.Phe936fs) rs1558149683
NM_018489.3(ASH1L):c.4651_4654del (p.Asn1551fs) rs1553264873
NM_018684.4(ZC4H2):c.320_321del (p.His107fs) rs1569200407
NM_018719.5(CDCA7L):c.*1200_*1203dup
NM_018896.5(CACNA1G):c.1103C>T (p.Ser368Phe)
NM_018896.5(CACNA1G):c.4601G>A (p.Gly1534Asp) rs1598588782
NM_018946.4(NANS):c.1A>G (p.Met1Val) rs369033671
NM_019042.5(PUS7):c.483+1G>A rs1586169255
NM_019112.4(ABCA7):c.4208del (p.Leu1403fs) rs538591288
NM_019616.4(F7):c.845C>T (p.Ala282Val) rs121964931
NM_019892.6(INPP5E):c.1665G>A (p.Thr555=) rs774331779
NM_020117.11(LARS1):c.3313C>T (p.Arg1105Ter) rs369437593
NM_020247.5(COQ8A):c.1665G>A (p.Met555Ile) rs199874519
NM_020247.5(COQ8A):c.637C>G (p.Arg213Gly) rs119468005
NM_020320.5(RARS2):c.1544A>G (p.Asp515Gly) rs765088174
NM_020361.5(CPA6):c.544C>T (p.Arg182Ter) rs773734224
NM_020365.5(EIF2B3):c.450del (p.Ala151fs) rs748937918
NM_020366.3(RPGRIP1):c.2368-2A>G rs1064797182
NM_020366.3(RPGRIP1):c.2718dup (p.Asn907Ter) rs776289402
NM_020366.3(RPGRIP1):c.800+1G>A rs376500610
NM_020427.3(SLURP1):c.178G>A (p.Glu60Lys) rs200727790
NM_020436.5(SALL4):c.131-2del rs1568866374
NM_020442.5(VARS2):c.513_516dup (p.Arg173fs) rs1582173192
NM_020458.4(TTC7A):c.2354T>C (p.Leu785Pro) rs1573068097
NM_020458.4(TTC7A):c.412C>T (p.Arg138Ter) rs773754673
NM_020473.3(PIGA):c.13+3800G>A rs587777398
NM_020529.3(NFKBIA):c.-49_87del (p.Met1fs)
NM_020549.4(CHAT):c.619C>G (p.Arg207Gly) rs760936252
NM_020631.5(PLEKHG5):c.985-2A>G rs1553174566
NM_020661.4(AICDA):c.428-1G>T rs766361035
NM_020661.4(AICDA):c.568C>T (p.Arg190Ter) rs769399833
NM_020661.4(AICDA):c.92A>G (p.Tyr31Cys) rs1057519097
NM_020702.5(MYORG):c.494_509dup (p.Ala171fs)
NM_020732.3(ARID1B):c.1960C>T (p.Gln654Ter) rs1554270809
NM_020745.4(AARS2):c.959C>T (p.Ala320Val)
NM_020751.3(COG6):c.518_540+3del rs1593418044
NM_020779.4(WDR35):c.1542del (p.Ile515fs) rs754712378
NM_020821.3(VPS13C):c.3003_3004del (p.Asn1001fs)
NM_020821.3(VPS13C):c.4339del (p.Arg1447fs)
NM_020821.3(VPS13C):c.6880C>T (p.Arg2294Ter) rs756128065
NM_020822.3(KCNT1):c.1066C>T (p.Arg356Trp) rs752514808
NM_020822.3(KCNT1):c.2798G>A (p.Arg933His) rs1023136319
NM_020919.4(ALS2):c.3158G>A (p.Trp1053Ter) rs1064797281
NM_020937.4(FANCM):c.1972C>T (p.Arg658Ter) rs368728266
NM_020937.4(FANCM):c.3898G>T (p.Glu1300Ter)
NM_020937.4(FANCM):c.4286_4287insTTAAAAGTTAAAAG (p.Arg1429delinsSerTer)
NM_020944.3(GBA2):c.1102C>T (p.Gln368Ter) rs1588013761
NM_020956.2(PRX):c.*3548del rs1064797244
NM_020971.3(SPTBN4):c.3202_3203del (p.Ala1068fs) rs1599759068
NM_020971.3(SPTBN4):c.6269_6276dup (p.Phe2093fs) rs1599819198
NM_020987.5(ANK3):c.12788_12789del (p.Thr4263fs)
NM_020988.3(GNAO1):c.38T>C (p.Leu13Pro) rs1555499768
NM_020988.3(GNAO1):c.676_677del (p.Val226fs) rs1064797211
NM_021005.4(NR2F2):c.382C>T (p.Arg128Cys) rs1596425042
NM_021008.3(DEAF1):c.700T>G (p.Trp234Gly) rs1057524157
NM_021008.4(DEAF1):c.851G>A (p.Cys284Tyr) rs1590013404
NM_021076.4(NEFH):c.469_491del (p.Val157fs) rs763364083
NM_021098.3(CACNA1H):c.2230C>T (p.Arg744Ter) rs1437449624
NM_021101.5(CLDN1):c.192C>A (p.Cys64Ter) rs752054405
NM_021222.3(PRUNE1):c.196C>T (p.Arg66Ter) rs137929776
NM_021628.3(ALOXE3):c.1392+2T>A
NM_021815.5(SLC5A7):c.1231G>A (p.Asp411Asn)
NM_021830.5(TWNK):c.1768C>T (p.Gln590Ter) rs1064797150
NM_021942.6(TRAPPC11):c.1737del (p.Ile579fs) rs1554008866
NM_021942.6(TRAPPC11):c.1737dup (p.Gly580fs) rs1554008865
NM_021957.4(GYS2):c.1015G>C (p.Ala339Pro) rs121918421
NM_021964.2(ZNF148):c.1191_1194del (p.Ser397fs) rs1560102245
NM_021975.4(RELA):c.592C>T (p.Arg198Ter)
NM_021978.4(ST14):c.238C>T (p.Gln80Ter)
NM_022041.3(GAN):c.1684C>G (p.Pro562Ala) rs79901179
NM_022042.4(SLC26A1):c.1073C>T (p.Ser358Leu) rs148832260
NM_022042.4(SLC26A1):c.554C>T (p.Thr185Met) rs139024319
NM_022072.5(NSUN3):c.465dup (p.Gly156fs) rs1576086329
NM_022089.4(ATP13A2):c.477+2T>G rs758014228
NM_022124.6(CDH23):c.6253+1G>A rs1554874373
NM_022124.6(CDH23):c.6449del (p.Gly2150fs) rs1564796673
NM_022124.6(CDH23):c.9270C>G (p.Tyr3090Ter) rs1564807887
NM_022124.6(CDH23):c.9284dup (p.Arg3096fs) rs1564808024
NM_022154.5(SLC39A8):c.610G>T rs779241085
NM_022168.4(IFIH1):c.1641+1G>C rs35337543
NM_022168.4(IFIH1):c.505A>T (p.Lys169Ter) rs201495678
NM_022336.4(EDAR):c.292C>T (p.Arg98Trp) rs557166582
NM_022367.4(SEMA4A):c.302T>C (p.Ile101Thr) rs149652495
NM_022436.3(ABCG5):c.1374C>G (p.Tyr458Ter) rs1558738919
NM_022455.5(NSD1):c.1052C>G (p.Ser351Ter)
NM_022455.5(NSD1):c.985G>A (p.Ala329Thr)
NM_022552.5(DNMT3A):c.1443C>A (p.Tyr481Ter)
NM_022725.4(FANCF):c.193C>T (p.Gln65Ter) rs753272712
NM_022725.4(FANCF):c.604del (p.Phe201_Leu202insTer) rs1479457172
NM_022726.4(ELOVL4):c.789dup (p.Asn264Ter) rs1582043186
NM_022765.4(MICAL1):c.2291_2300del (p.Gly764fs) rs1447618526
NM_023073.3(CPLANE1):c.4006C>T (p.Arg1336Trp) rs367543061
NM_023073.3(CPLANE1):c.650G>A (p.Trp217Ter)
NM_023077.3(COA7):c.540_550dup (p.Ile184fs) rs1553254475
NM_023077.3(COA7):c.574C>T (p.Arg192Cys) rs780593265
NM_023936.2(MRPS34):c.94C>T (p.Gln32Ter) rs763672163
NM_024306.5(FA2H):c.379C>T (p.Arg127Ter)
NM_024339.5(THOC6):c.739C>T (p.Arg247Ter)
NM_024422.6(DSC2):c.1888+1G>C
NM_024426.6(WT1):c.699C>A (p.Tyr233Ter) rs1349302999
NM_024496.4(IRF2BPL):c.2236_2237del (p.Ser746fs)
NM_024496.4(IRF2BPL):c.355C>T (p.Gln119Ter) rs1223563812
NM_024496.4(IRF2BPL):c.519C>G (p.Tyr173Ter) rs1555377415
NM_024513.4(FYCO1):c.265C>T (p.Arg89Cys) rs141476300
NM_024570.4(RNASEH2B):c.37_43del (p.Ala13fs)
NM_024570.4(RNASEH2B):c.634G>A (p.Ala212Thr)
NM_024577.3(SH3TC2):c.1897del (p.Ala633fs) rs1064797314
NM_024649.5(BBS1):c.1232_1235del (p.Gly411fs) rs1555049194
NM_024649.5(BBS1):c.952G>A (p.Gly318Arg) rs1555048487
NM_024675.3(PALB2):c.109-2A>G rs730881897
NM_024675.3(PALB2):c.1653T>A (p.Tyr551Ter) rs118203997
NM_024675.3(PALB2):c.1724dup (p.Ser576Glufs) rs1555460682
NM_024675.3(PALB2):c.466_467del (p.Ile156fs) rs876659405
NM_024675.4(PALB2):c.108+1G>A rs1060499814
NM_024685.4(BBS10):c.686C>T (p.Pro229Leu)
NM_024685.4(BBS10):c.858_859dup (p.Gln287fs) rs1057516836
NM_024757.5(EHMT1):c.2426C>T (p.Pro809Leu) rs587780332
NM_024757.5(EHMT1):c.3676TTC[1] (p.Phe1227del)
NM_024915.4(GRHL2):c.801del (p.Met267fs) rs1064797348
NM_025074.7(FRAS1):c.3973C>T (p.Gln1325Ter) rs1578291638
NM_025074.7(FRAS1):c.5125C>T (p.Arg1709Ter) rs775517752
NM_025074.7(FRAS1):c.7522+2_7522+4del
NM_025077.4(TOE1):c.-35C>T rs1553136984
NM_025114.4(CEP290):c.2682dup (p.Ser895fs) rs1555216730
NM_025114.4(CEP290):c.3784_3785insTT (p.His1262fs) rs1064797171
NM_025114.4(CEP290):c.4029G>A (p.Lys1343=) rs1057519245
NM_025114.4(CEP290):c.6135+2T>A rs1555200648
NM_025114.4(CEP290):c.628A>T (p.Lys210Ter) rs763473957
NM_025114.4(CEP290):c.6516del (p.Lys2172fs) rs1057519165
NM_025114.4(CEP290):c.7048C>A (p.Gln2350Lys) rs375548374
NM_025114.4(CEP290):c.7048C>T (p.Gln2350Ter) rs375548374
NM_025114.4(CEP290):c.7394_7395del (p.Glu2465fs) rs569673313
NM_025137.4(SPG11):c.4434+1G>A rs1567148391
NM_025137.4(SPG11):c.6409C>T (p.Arg2137Ter) rs769898852
NM_025137.4(SPG11):c.6737_6740del (p.Ile2246fs) rs312262781
NM_025152.3(NUBPL):c.815-27T>C rs118161496
NM_025243.4(SLC19A3):c.223G>A (p.Asp75Asn) rs980641322
NM_030621.4(DICER1):c.3682C>T (p.Gln1228Ter) rs1566767820
NM_030653.4(DDX11):c.2230C>T (p.Gln744Ter) rs776627170
NM_030665.4(RAI1):c.1067del (p.Tyr356fs) rs1598088228
NM_030777.4(SLC2A10):c.254T>C (p.Leu85Pro)
NM_030777.4(SLC2A10):c.313C>T (p.Arg105Cys) rs767864243
NM_030922.6(NIPA2):c.731A>G (p.Asn244Ser) rs371775791
NM_030962.3(SBF2):c.1975del (p.Asp659fs) rs1590239797
NM_030962.3(SBF2):c.2578C>T (p.Arg860Ter) rs764814296
NM_030962.3(SBF2):c.2597del (p.Pro866fs) rs1554925904
NM_031220.4(PITPNM3):c.1878G>C (p.Gln626His) rs76024428
NM_031263.4(HNRNPK):c.673T>C (p.Tyr225His) rs1588417800
NM_031263.4(HNRNPK):c.954-5T>G
NM_031407.7(HUWE1):c.12469C>G (p.Leu4157Val) rs1556912828
NM_031407.7(HUWE1):c.12511G>T (p.Asp4171Tyr) rs1569398624
NM_031407.7(HUWE1):c.12559C>T (p.Arg4187Cys) rs121918527
NM_031844.3(HNRNPU):c.17_33del (p.Val6fs) rs1558190933
NM_032043.2(BRIP1):c.507G>A (p.Gln169=) rs876660937
NM_032119.4(ADGRV1):c.10935_10938del (p.Ser3646fs)
NM_032193.4(RNASEH2C):c.227C>T (p.Pro76Leu) rs76091978
NM_032228.6(FAR1):c.1438C>T (p.Arg480Cys) rs12799308
NM_032271.3(TRAF7):c.1273A>T (p.Thr425Ser)
NM_032273.4(TMEM126A):c.86+2T>C rs1555208375
NM_032409.3(PINK1):c.1015G>A (p.Ala339Thr) rs55831733
NM_032409.3(PINK1):c.1153T>C (p.Phe385Leu) rs763416852
NM_032415.7(CARD11):c.239T>C (p.Leu80Pro)
NM_032415.7(CARD11):c.2497C>T (p.Pro833Ser)
NM_032436.4(CHAMP1):c.1680_1683dup (p.Glu562delinsProTer) rs1594131663
NM_032444.4(SLX4):c.1693C>T (p.Gln565Ter)
NM_032682.5(FOXP1):c.1722+1G>A rs1553660900
NM_032682.6(FOXP1):c.1653_1672dup (p.Asn558fs) rs1559596699
NM_032803.6(SLC7A3):c.1766G>C (p.Ser589Thr) rs149447856
NM_032833.4(PPP1R15B):c.1973G>A (p.Arg658His) rs759466766
NM_032856.5(WDR73):c.1132del (p.Arg378fs) rs747109506
NM_032861.4(SERAC1):c.1742dup (p.Asn581fs) rs1583555500
NM_033028.5(BBS4):c.322G>A (p.Ala108Thr) rs1595928075
NM_033028.5(BBS4):c.332+2_332+3insTT
NM_033028.5(BBS4):c.883C>T (p.Arg295Ter) rs775710800
NM_033056.4(PCDH15):c.2868+1G>A rs1589821731
NM_033380.3(COL4A5):c.2315G>T (p.Gly772Val) rs104886173
NM_033380.3(COL4A5):c.4475G>T (p.Gly1492Val) rs104886282
NM_033380.3(COL4A5):c.835-2A>G rs1556406859
NM_033380.3(COL4A5):c.920G>A (p.Gly307Asp) rs104886082
NM_033517.1(SHANK3):c.1368dup (p.Ala457fs) rs1064797289
NM_033517.1(SHANK3):c.1496del (p.Lys499fs) rs1064797290
NM_033517.1(SHANK3):c.2265+1G>A rs1396379503
NM_033517.1(SHANK3):c.3788dup (p.Ala1264fs) rs1555910193
NM_033517.1(SHANK3):c.4032_4035del (p.Glu1344fs) rs1569116167
NM_033629.6(TREX1):c.806del (p.Gly269fs) rs1575294269
NM_052867.4(NALCN):c.1733A>G (p.Tyr578Cys) rs786203988
NM_052867.4(NALCN):c.3577C>T (p.Arg1193Cys)
NM_052867.4(NALCN):c.943-1G>C
NM_053025.4(MYLK):c.535C>T (p.Arg179Ter) rs761508149
NM_057175.5(NAA15):c.1172del (p.Ser391fs)
NM_058004.4(PI4KA):c.5560G>A (p.Asp1854Asn) rs747119727
NM_058216.3(RAD51C):c.653_654del (p.Glu218fs) rs587782286
NM_080605.4(B3GALT6):c.681C>G (p.Tyr227Ter) rs1375562480
NM_080632.3(UPF3B):c.1149_1150del (p.Lys384fs)
NM_080675.4(SUN5):c.1066C>T (p.Arg356Cys) rs754130052
NM_080680.3(COL11A2):c.1861C>A (p.Pro621Thr) rs121912952
NM_080680.3(COL11A2):c.1879C>T (p.Arg627Ter) rs374156844
NM_080680.3(COL11A2):c.4220del (p.Lys1407fs) rs1562312539
NM_080680.3(COL11A2):c.4438G>A (p.Gly1480Arg)
NM_080680.3(COL11A2):c.982C>T (p.Gln328Ter) rs1554223504
NM_080911.3(UNG):c.309del (p.Ser103fs) rs1555264685
NM_130398.4(EXO1):c.136del (p.Lys45_Leu46insTer) rs750915959
NM_130466.4(UBE3B):c.2764C>T (p.Arg922Cys) rs202144137
NM_130468.4(CHST14):c.275del (p.Gly92fs) rs1595869290
NM_130839.5(UBE3A):c.2596del (p.Ala866fs) rs1064797196
NM_130849.4(SLC39A4):c.1004_1020dup (p.Ala341fs) rs1586652047
NM_130849.4(SLC39A4):c.295G>A (p.Ala99Thr) rs182506368
NM_133259.4(LRPPRC):c.3963C>A (p.Tyr1321Ter) rs863224052
NM_133497.4(KCNV2):c.530G>C (p.Cys177Ser)
NM_138348.6(OTULIN):c.325-2A>G rs1553995945
NM_138413.4(HOGA1):c.769T>G (p.Cys257Gly) rs267606764
NM_138425.4(C12orf57):c.174del (p.Thr59fs) rs1591674794
NM_138576.4(BCL11B):c.1944_1965del (p.Gly649fs)
NM_138694.4(PKHD1):c.282-2A>T rs1554227278
NM_138694.4(PKHD1):c.8206T>G (p.Trp2736Gly) rs764880309
NM_138715.3(MSR1):c.818-1G>A rs772978107
NM_138775.3(ALKBH8):c.960_964del (p.Leu320fs)
NM_138813.4(ATP8B3):c.1009C>T (p.Arg337Ter) rs568761860
NM_139058.3(ARX):c.856G>A (p.Gly286Ser) rs28935479
NM_139076.3(ABRAXAS1):c.577C>T (p.Arg193Ter) rs201698934
NM_139242.4(MTFMT):c.146_153del (p.Arg49fs) rs587777417
NM_144499.3(GNAT1):c.82C>T (p.Arg28Ter) rs774214573
NM_144585.4(SLC22A12):c.103_104del (p.Ser35fs) rs764889032
NM_144612.6(LOXHD1):c.1468C>T (p.Arg490Ter) rs527536011
NM_144612.6(LOXHD1):c.2497C>T (p.Arg833Ter) rs188119157
NM_144687.3(NLRP12):c.2586G>A (p.Trp862Ter) rs1568662444
NM_144687.4(NLRP12):c.2186_2187insTT (p.Val730fs) rs1600700389
NM_144773.4(PROKR2):c.1058G>A (p.Arg353His)
NM_144966.5(FREM1):c.5205-1G>T rs1064797351
NM_145064.3(STAC3):c.862A>T (p.Lys288Ter) rs371720347
NM_145207.3(SPATA5):c.1877G>C (p.Trp626Ser) rs375343753
NM_145239.3(PRRT2):c.525del (p.Glu177fs) rs1596891528
NM_145261.4(DNAJC19):c.292dup (p.Tyr98fs)
NM_152269.5(MTRFR):c.427_442dup (p.Thr148fs) rs1439433665
NM_152296.5(ATP1A3):c.1072G>C (p.Gly358Arg) rs606231432
NM_152296.5(ATP1A3):c.1756C>T (p.Arg586Trp)
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys) rs1064797245
NM_152296.5(ATP1A3):c.2323C>A (p.Pro775Thr) rs1555859593
NM_152296.5(ATP1A3):c.2324C>T (p.Pro775Leu) rs886041396
NM_152419.3(HGSNAT):c.848C>T (p.Pro283Leu) rs121908282
NM_152558.5(IQCE):c.572_579+1del
NM_152618.3(BBS12):c.1115_1116del (p.Gly371_Phe372insTer) rs587777803
NM_152641.4(ARID2):c.1581-2A>T
NM_152703.5(SAMD9L):c.3353A>G (p.Tyr1118Cys) rs1562789302
NM_152703.5(SAMD9L):c.658G>A (p.Glu220Lys) rs1562795586
NM_152722.5(HEPACAM):c.85+1G>A rs1555056722
NM_152778.3(MFSD8):c.1006G>C (p.Glu336Gln) rs150418024
NM_153240.5(NPHP3):c.1007dup (p.His337fs) rs1576682959
NM_153460.4(IL17RC):c.1674dup (p.Pro559fs) rs1559327071
NM_153603.4(COG7):c.1166_1167insT (p.Gln389fs) rs1057519232
NM_153603.4(COG7):c.170-7A>G rs1555496968
NM_153676.4(USH1C):c.36+2T>A
NM_153676.4(USH1C):c.841_848del (p.Ser281fs) rs1064797153
NM_153704.6(TMEM67):c.1322G>A (p.Arg441His)
NM_153704.6(TMEM67):c.1700A>G (p.Tyr567Cys) rs148726767
NM_153717.3(EVC):c.364C>T (p.Pro122Ser) rs1407007311
NM_153766.3(KCNJ1):c.601C>T (p.Leu201Phe)
NM_153816.6(SNX14):c.1651G>T (p.Glu551Ter) rs1582697948
NM_170675.5(MEIS2):c.716del (p.Gly239fs)
NM_170707.4(LMNA):c.1146C>A (p.Gly382=) rs57508089
NM_170707.4(LMNA):c.122G>C (p.Arg41Pro) rs1060502215
NM_170707.4(LMNA):c.158A>G (p.Glu53Gly) rs60290646
NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys) rs267607613
NM_170707.4(LMNA):c.481G>A (p.Glu161Lys) rs28933093
NM_172107.4(KCNQ2):c.1851del (p.Ser618fs) rs1601548976
NM_172107.4(KCNQ2):c.1A>G (p.Met1Val) rs118192185
NM_172107.4(KCNQ2):c.394G>A (p.Val132Met)
NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp)
NM_172107.4(KCNQ2):c.740C>T (p.Ser247Leu) rs74315392
NM_172107.4(KCNQ2):c.811G>C (p.Gly271Arg) rs1064797284
NM_172107.4(KCNQ2):c.816+1G>A rs1057519124
NM_172107.4(KCNQ2):c.854C>T (p.Pro285Leu)
NM_172351.3(CD46):c.1103C>T (p.Thr368Ile) rs146803767
NM_172362.3(KCNH1):c.1478C>A (p.Thr493Asn) rs1574266171
NM_173495.3(PTCHD1):c.1290C>A (p.Tyr430Ter)
NM_173591.3(OTOGL):c.1414+2T>C rs1592613721
NM_173630.4(RTTN):c.4474C>T (p.Gln1492Ter) rs1555717153
NM_173842.3(IL1RN):c.62C>G (p.Ser21Ter) rs112879651
NM_176787.5(PIGN):c.1247_1251del (p.Glu416fs)
NM_176787.5(PIGN):c.1434+5G>A rs369486176
NM_176787.5(PIGN):c.1674+1G>A rs376355678
NM_176787.5(PIGN):c.1837C>T (p.Arg613Ter)
NM_177438.3(DICER1):c.4417del (p.Ser1473fs)
NM_177550.4(SLC13A5):c.1141del (p.Ser381fs) rs1555541486
NM_177559.3(CSNK2A1):c.327dup (p.Ala110fs)
NM_177559.3(CSNK2A1):c.71G>A (p.Trp24Ter)
NM_177559.3(CSNK2A1):c.723+1G>C
NM_178012.5(TUBB2B):c.1172G>A (p.Arg391His) rs1581525683
NM_178012.5(TUBB2B):c.629T>A (p.Ile210Asn) rs1561826759
NM_178857.6(RP1L1):c.326_327insT (p.Lys111fs) rs771427543
NM_181458.4(PAX3):c.290G>C (p.Arg97Pro)
NM_181486.4(TBX5):c.697G>C (p.Ala233Pro)
NM_181789.4(GLDN):c.1179-2A>G rs141816048
NM_181798.1(KCNQ1):c.1387G>A (p.Ala463Thr) rs199472813
NM_181798.1(KCNQ1):c.795G>A (p.Trp265Ter) rs794728572
NM_182931.3(KMT2E):c.1843G>T (p.Glu615Ter) rs1584796761
NM_182961.3(SYNE1):c.22193delG (p.Gly7398Aspfs) rs1057519157
NM_182961.4(SYNE1):c.13258C>T (p.Arg4420Ter) rs752224921
NM_182961.4(SYNE1):c.14223del (p.Ser4742fs) rs1554468335
NM_182961.4(SYNE1):c.15347T>A (p.Leu5116Ter) rs1452163185
NM_182961.4(SYNE1):c.16710+2_16710+11del rs1589919815
NM_182961.4(SYNE1):c.17917C>T (p.Gln5973Ter) rs1064797331
NM_182961.4(SYNE1):c.20641del (p.Leu6881fs)
NM_182961.4(SYNE1):c.4619del (p.Ala1540fs)
NM_182961.4(SYNE1):c.5871del (p.Glu1958fs) rs771857618
NM_182961.4(SYNE1):c.7557del (p.Phe2520fs) rs1064797332
NM_182978.4(GNAL):c.448G>T (p.Glu150Ter) rs1568010705
NM_182978.4(GNAL):c.462_463del (p.Lys155fs) rs1057519098
NM_182978.4(GNAL):c.504+1G>T rs1555646537
NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser) rs386834233
NM_183065.4(TMEM107):c.*638C>T rs368022715
NM_183065.4(TMEM107):c.*759C>T rs201787275
NM_183075.3(CYP2U1):c.1396C>T (p.Arg466Ter) rs766380148
NM_183075.3(CYP2U1):c.555del (p.Arg186fs) rs1057519146
NM_198056.2(SCN5A):c.2150C>T (p.Pro717Leu) rs199473149
NM_198056.2(SCN5A):c.4978A>G (p.Ile1660Val) rs199473625
NM_198252.3(GSN):c.1323del (p.Trp442fs) rs1554821138
NM_198253.3(TERT):c.2603A>G (p.Asp868Gly)
NM_198503.5(KCNT2):c.569G>A (p.Arg190His) rs1572547466
NM_198903.2(GABRG2):c.549-3T>G rs750459631
NM_198994.3(TGM6):c.1093+1G>A rs1599953368
NM_198994.3(TGM6):c.1429_1430insTCTCTGGCGTGACGACCTCCTG (p.Gly477fs) rs1181987535
NM_198994.3(TGM6):c.1430_1439del (p.Gly477fs) rs760886419
NM_198994.3(TGM6):c.842_843insC (p.Cys282fs) rs1555799867
NM_198994.3(TGM6):c.844_850+3del rs1555799870
NM_199436.1(SPAST):c.1113_1116del (p.Phe371fs) rs1553317029
NM_201253.3(CRB1):c.2687G>A (p.Cys896Tyr) rs1571544334
NM_201253.3(CRB1):c.2842+5G>A rs773914330
NM_201384.3(PLEC):c.5053del (p.Arg1685fs) rs1057519155
NM_201384.3(PLEC):c.5055del (p.Gln1686fs) rs1064797350
NM_201384.3(PLEC):c.6328C>T (p.Gln2110Ter)
NM_201384.3(PLEC):c.7387C>T (p.Gln2463Ter) rs1554689806
NM_201548.5(CERKL):c.1546_1565dup (p.Gly523fs) rs1064797278
NM_203391.3(GK):c.553-2A>G
NM_203447.4(DOCK8):c.3339del (p.Phe1113fs)
NM_203486.3(DLL3):c.1511G>A (p.Gly504Asp) rs104894676
NM_206933.2(USH2A):c.10974_10975dup(p.Thr3659Ilefs) rs1064797133
NM_206933.3(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814
NM_206933.3(USH2A):c.12448A>G (p.Thr4150Ala) rs1172628170
NM_206933.3(USH2A):c.15353del (p.Asn5118fs) rs1553248224
NM_206933.3(USH2A):c.15520-1G>A rs767265734
NM_206933.3(USH2A):c.3221G>A (p.Trp1074Ter) rs1064797138
NM_206933.3(USH2A):c.5118G>A (p.Trp1706Ter) rs1461319754
NM_206933.3(USH2A):c.5167+1G>C rs794727408
NM_206933.3(USH2A):c.5777-2A>C rs1064797136
NM_206933.3(USH2A):c.5877del (p.Ser1961fs) rs727505343
NM_206933.3(USH2A):c.8522G>A (p.Trp2841Ter) rs1064797134
NM_206933.3(USH2A):c.9048C>A (p.Cys3016Ter) rs1057519208
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn) rs146824138
NM_206933.4(USH2A):c.264C>A (p.Cys88Ter)
NM_206933.4(USH2A):c.8638_8641dup (p.Ser2881fs) rs1553272035
NM_206933.4(USH2A):c.993_994del (p.Arg331fs) rs1571703801
NM_207352.4(CYP4V2):c.1199G>A (p.Arg400His) rs199476203
NM_207361.6(FREM2):c.3937G>T (p.Glu1313Ter)
NM_213599.2(ANO5):c.69C>A (p.Tyr23Ter) rs762035813
NR_001566.1(TERC):n.91GC[2]

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